G43W (p.Gly43Trp) variant of ACVRL1 (Activin receptor type-1-like)
G43W (p.Gly43Trp) in ACVRL1 (Activin receptor type-1-like) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
G43W (p.Gly43Trp) variant details
- p.Gly43Trp
- gnomAD 12-51913164-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- REVEL 0.50
- CADD 23.20
- PolyPhen-2 0.80
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available