R47H (p.Arg47His) variant of KCNA1 (Q09470)
R47H (p.Arg47His) in KCNA1 (Q09470) 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 0.76 / 1. The record also includes population frequency data and structural context.
R47H (p.Arg47His) variant details
- p.Arg47His
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.757
- REVEL 0.76
- CADD 26.10
- PolyPhen-2 0.20
- SIFT 0.03
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available