G21V (p.Gly21Val) variant of ACVRL1 (Activin receptor type-1-like)
G21V (p.Gly21Val) in ACVRL1 (Activin receptor type-1-like) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
G21V (p.Gly21Val) variant details
- p.Gly21Val
- gnomAD 12-51913099-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.476
- REVEL 0.35
- CADD 26.90
- PolyPhen-2 0.00
- SIFT 0.02
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.1e-05)
- Structural context available
- Literature evidence available