C36F (p.Cys36Phe) variant of ACVRL1 (Activin receptor type-1-like)
C36F (p.Cys36Phe) in ACVRL1 (Activin receptor type-1-like) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
C36F (p.Cys36Phe) variant details
- p.Cys36Phe
- gnomAD 12-51913144-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.828
- REVEL 0.89
- CADD 24.50
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available