R54S (p.Arg54Ser) variant of KCNB1 (Q14721)
R54S (p.Arg54Ser) 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 0.66 / 1. The record also includes population frequency data and structural context.
R54S (p.Arg54Ser) variant details
- p.Arg54Ser
- NCI-TCGA Cosmic COSV1008
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.656
- REVEL 0.57
- CADD 27.70
- PolyPhen-2 0.63
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available