C46F (p.Cys46Phe) variant of ACVRL1 (Activin receptor type-1-like)
C46F (p.Cys46Phe) 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.
C46F (p.Cys46Phe) variant details
- p.Cys46Phe
- gnomAD 12-51913174-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.83
- REVEL 0.88
- CADD 26.30
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available