G48V (p.Gly48Val) variant of ACVRL1 (Activin receptor type-1-like)
G48V (p.Gly48Val) in ACVRL1 (Activin receptor type-1-like) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
G48V (p.Gly48Val) variant details
- p.Gly48Val
- gnomAD 12-51913180-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.749
- REVEL 0.74
- CADD 25.20
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available