H133R (p.His133Arg) variant of CASK (O14936)
H133R (p.His133Arg) in CASK (O14936) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
H133R (p.His133Arg) variant details
- p.His133Arg
- cosmic curated COSV59370
- Missense
- Variant Prioritization Score for Impact Estimate 0.746
- REVEL 0.88
- CADD 24.30
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available