owencqueen/cgbench_data huggingface dataset:
Gene: SERPINC1 (HGNC:775)
Evidence Code: PM1 — Moderate
Modification Type: Gene-specific
This code is applicable for variants disrupting cystine residues involved in disulfide bridges (Cys40, Cys53, Cys127, Cys160, Cys279, Cys462)
1
, variants that would impact heparin binding site residues (Ile39, Arg56, Pro73, Arg79), variants involving reactive site residues (Ala414 and Ala416)
2
, and variants involving the N-glycosylation site (Asn224)
3
.
Gene: SERPINC1 (HGNC:775)
Evidence Code: PP3 — Supporting
Modification Type: Gene-specific
Appropriate to use for missense variants that have a REVEL score of greater or equal to 0.6. For potential splicing variants, SpliceAI must predict a damaging impact with a score greater or equal to 0.5.
Gene: SERPINC1 (HGNC:775)
Evidence Code: BP4 — Supporting
Modification Type: Gene-specific
Use this code for missense variants with a REVEL score of < or equal to 0.30 and no evidence of a potential splicing effect using the Splice AI prediction tool (less than or equal to 0.1), or for non-canonical intronic variants with no evidence of a potential splicing effect using the Splice AI prediction tool.
Gene: SERPINC1 (HGNC:775)
Evidence Code: BP7 — Supporting
Modification Type: General recommendation
Use Splice AI to rule out a predicted splicing effect (less than or equal to 0.1). Evolutionary conservation is defined as a PhyloP > 0.1 
OR
 the reference nucleotide is present in 3 mammals or 1 primate.