G43V (p.Gly43Val) variant of ACVRL1 (Activin receptor type-1-like)
G43V (p.Gly43Val) in ACVRL1 (Activin receptor type-1-like) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
G43V (p.Gly43Val) variant details
- p.Gly43Val
- gnomAD rs1940731581
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.36
- CADD 16.70
- PolyPhen-2 0.03
- SIFT 0.14
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available