G170R (p.Gly170Arg) variant of CASK (O14936)
G170R (p.Gly170Arg) in CASK (O14936) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
G170R (p.Gly170Arg) variant details
- p.Gly170Arg
- cosmic curated COSV59375
- Missense
- Variant Prioritization Score for Impact Estimate 0.493
- REVEL 0.36
- CADD 22.10
- PolyPhen-2 0.34
- SIFT 0.40
- Population evidence available
- Structural context available