W50L (p.Trp50Leu) variant of ACVRL1 (Activin receptor type-1-like)
W50L (p.Trp50Leu) in ACVRL1 (Activin receptor type-1-like) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
W50L (p.Trp50Leu) variant details
- p.Trp50Leu
- Ensembl rs867439593
- Missense
- Variant Prioritization Score for Impact Estimate 0.582
- REVEL 0.49
- CADD 21.40
- PolyPhen-2 0.01
- SIFT 0.60
- Population evidence available
- Structural context available