L126V (p.Leu126Val) variant of CASK (O14936)
L126V (p.Leu126Val) in CASK (O14936) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
L126V (p.Leu126Val) variant details
- p.Leu126Val
- rs2064660243
- gnomAD X-41523025-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.681
- CADD 22.80
- Most common in the African/African-American population (allele frequency 3.2e-05)
- Structural context available
- Literature evidence available