R47H (p.Arg47His) variant of KCNB1 (Q14721)
R47H (p.Arg47His) 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 0.70 / 1. The record also includes population frequency data and structural context.
R47H (p.Arg47His) variant details
- p.Arg47His
- rs1338339252
- NCI-TCGA Cosmic COSV6556
- cosmic curated COSV65568
- gnomAD rs1338339252
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.702
- REVEL 0.62
- CADD 29.50
- PolyPhen-2 0.98
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available