P44H (p.Pro44His) variant of ACVRL1 (Activin receptor type-1-like)
P44H (p.Pro44His) in ACVRL1 (Activin receptor type-1-like) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
P44H (p.Pro44His) variant details
- p.Pro44His
- gnomAD 12-51913168-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.466
- REVEL 0.40
- CADD 16.30
- PolyPhen-2 0.01
- SIFT 0.22
- Population evidence available
- Structural context available
- Literature evidence available