R87C (p.Arg87Cys) variant of KCNB1 (Q14721)
R87C (p.Arg87Cys) 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 0.86 / 1. The record also includes population frequency data.
R87C (p.Arg87Cys) variant details
- p.Arg87Cys
- NCI-TCGA Cosmic COSV6556
- cosmic curated COSV65569
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.861
- REVEL 0.89
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)