R51H (p.Arg51His) variant of KCNB1 (Q14721)
R51H (p.Arg51His) in KCNB1 (Q14721) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
R51H (p.Arg51His) variant details
- p.Arg51His
- NCI-TCGA TCGA novel
- 1000Genomes rs2122803715
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.796
- REVEL 0.79
- CADD 29.80
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available