D95G (p.Asp95Gly) variant of CASK (O14936)
D95G (p.Asp95Gly) in CASK (O14936) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
D95G (p.Asp95Gly) variant details
- p.Asp95Gly
- ExAC rs753922395
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- REVEL 0.35
- CADD 32.00
- PolyPhen-2 0.95
- SIFT 0.01
- Population evidence available
- Structural context available