K25N (p.Lys25Asn) variant of ACVRL1 (Activin receptor type-1-like)
K25N (p.Lys25Asn) in ACVRL1 (Activin receptor type-1-like) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
K25N (p.Lys25Asn) variant details
- p.Lys25Asn
- Ensembl rs1940728880
- Missense
- Variant Prioritization Score for Impact Estimate 0.242
- REVEL 0.21
- CADD 16.30
- PolyPhen-2 0.04
- SIFT 0.27
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available