K25E (p.Lys25Glu) variant of ACVRL1 (Activin receptor type-1-like)
K25E (p.Lys25Glu) in ACVRL1 (Activin receptor type-1-like) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
K25E (p.Lys25Glu) variant details
- p.Lys25Glu
- gnomAD 12-51913110-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- REVEL 0.24
- CADD 16.00
- PolyPhen-2 0.00
- SIFT 0.70
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available