C41F (p.Cys41Phe) variant of ACVRL1 (Activin receptor type-1-like)
C41F (p.Cys41Phe) 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.
C41F (p.Cys41Phe) variant details
- p.Cys41Phe
- gnomAD 12-51913159-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.829
- REVEL 0.88
- CADD 26.30
- PolyPhen-2 0.96
- SIFT 0.01
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Literature evidence available