G43S (p.Gly43Ser) variant of ACVR1 (Activin receptor type-1)
G43S (p.Gly43Ser) in ACVR1 (Activin receptor type-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
G43S (p.Gly43Ser) variant details
- p.Gly43Ser
- rs112489929
- ClinGen CA1919214
- ClinVar RCV000921289
- ClinVar RCV005903083
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- REVEL 0.33
- CADD 20.70
- PolyPhen-2 0.02
- SIFT 0.69
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:PJL population (allele frequency 0.0052)
- Structural context available