R54C (p.Arg54Cys) variant of KCNB1 (Q14721)
R54C (p.Arg54Cys) in KCNB1 (Q14721) 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 0.75 / 1. The record also includes population frequency data and structural context.
R54C (p.Arg54Cys) variant details
- p.Arg54Cys
- NCI-TCGA Cosmic COSV1008
- cosmic curated COSV10087
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.749
- REVEL 0.69
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available