C34F (p.Cys34Phe) variant of ACVRL1 (Activin receptor type-1-like)
C34F (p.Cys34Phe) in ACVRL1 (Activin receptor type-1-like) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
C34F (p.Cys34Phe) variant details
- p.Cys34Phe
- gnomAD 12-51913138-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.854
- REVEL 0.92
- CADD 26.50
- PolyPhen-2 0.99
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available