R123K (p.Arg123Lys) variant of CASK (O14936)
R123K (p.Arg123Lys) 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 0.46 / 1. The record also includes population frequency data and structural context.
R123K (p.Arg123Lys) variant details
- p.Arg123Lys
- NCI-TCGA Cosmic COSV5937
- cosmic curated COSV59371
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- REVEL 0.28
- CADD 23.20
- PolyPhen-2 0.76
- SIFT 0.30
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available