R87H (p.Arg87His) variant of KCNB1 (Q14721)
R87H (p.Arg87His) 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 0.88 / 1. The record also includes population frequency data.
R87H (p.Arg87His) variant details
- p.Arg87His
- rs1407696419
- TOPMed rs1407696419
- gnomAD rs1407696419
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.882
- REVEL 0.93
- CADD 30.00
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)