C132Y (p.Cys132Tyr) variant of CASK (O14936)
C132Y (p.Cys132Tyr) 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.
C132Y (p.Cys132Tyr) variant details
- p.Cys132Tyr
- rs1247007000
- gnomAD X-41523012-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.681
- CADD 22.80
- Population evidence available
- Structural context available
- Literature evidence available