owencqueen/cgbench_data huggingface dataset:
Gene: ACVRL1 (HGNC:175)
Evidence Code: PS3 — Strong
Modification Type: Disease-specific,Strength
mRNA splicing assays can be used as strong functional evidence. 


Note:
 level of evidence used may differ depending on whether the abnormal transcript is in-frame or out-of-frame, and whether there is complete or incomplete splicing impact.


Do not use PS3 for splice variants that meet PVS1.
Gene: ACVRL1 (HGNC:175)
Evidence Code: PM1 — Moderate
Modification Type: Gene-specific
Apply if variant is located in a critical residue:




ACVRL1
:


glycine-rich loop: G209-V216


phosphate anchor: K229


C-helix E pairing the phosphate anchor: E242


catalytic loop: R329-N335


metal-binding loop: D348-L351


BMP10
 interaction cluster


(His40, Val54, Val56, Arg57, Glu58, Glu59, His66, Asn71, Leu72, His73, Glu75, Leu76, Arg78, Gly79, Arg80, Thr82, Glu83, Phe84, Val85, His87)