R47C (p.Arg47Cys) variant of KCNB1 (Q14721)
R47C (p.Arg47Cys) in KCNB1 (Q14721) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
R47C (p.Arg47Cys) variant details
- p.Arg47Cys
- cosmic curated COSV10087
- 1000Genomes rs551083482
- ExAC rs551083482
- TOPMed rs551083482
- Missense
- Variant Prioritization Score for Impact Estimate 0.738
- REVEL 0.69
- CADD 31.00
- PolyPhen-2 0.58
- SIFT 0.00
- Most common in the 1KG:GWD population (allele frequency 0.0043)
- Structural context available