R130H (p.Arg130His) variant of CASK (O14936)
R130H (p.Arg130His) in CASK (O14936) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
R130H (p.Arg130His) variant details
- p.Arg130His
- NCI-TCGA Cosmic COSV5937
- cosmic curated COSV59376
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.21
- CADD 26.00
- PolyPhen-2 0.12
- SIFT 0.03
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available