G29C (p.Gly29Cys) variant of ACVRL1 (Activin receptor type-1-like)
G29C (p.Gly29Cys) in ACVRL1 (Activin receptor type-1-like) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
G29C (p.Gly29Cys) variant details
- p.Gly29Cys
- gnomAD 12-51913122-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.33
- CADD 16.10
- PolyPhen-2 0.15
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available