R11H (p.Arg11His) variant of KCNB1 (Q14721)
R11H (p.Arg11His) 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 0.46 / 1. The record also includes population frequency data and structural context.
R11H (p.Arg11His) variant details
- p.Arg11His
- gnomAD rs1318853446
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.458
- REVEL 0.34
- CADD 23.60
- PolyPhen-2 0.10
- SIFT 0.03
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.9e-05)
- Structural context available