G29V (p.Gly29Val) variant of ACVRL1 (Activin receptor type-1-like)
G29V (p.Gly29Val) in ACVRL1 (Activin receptor type-1-like) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
G29V (p.Gly29Val) variant details
- p.Gly29Val
- gnomAD 12-51913123-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.217
- REVEL 0.33
- CADD 0.64
- PolyPhen-2 0.01
- SIFT 0.30
- Population evidence available
- Structural context available
- Literature evidence available