R34C (p.Arg34Cys) variant of KCNB1 (Q14721)
R34C (p.Arg34Cys) 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 0.58 / 1. The record also includes population frequency data.
R34C (p.Arg34Cys) variant details
- p.Arg34Cys
- NCI-TCGA TCGA novel
- TOPMed rs1980526574
- gnomAD rs1980526574
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.584
- REVEL 0.48
- CADD 24.00
- PolyPhen-2 0.15
- SIFT 0.14
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 2.4e-05)