R47S (p.Arg47Ser) variant of KCNB1 (Q14721)
R47S (p.Arg47Ser) in KCNB1 (Q14721) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
R47S (p.Arg47Ser) variant details
- p.Arg47Ser
- 1000Genomes rs551083482
- ExAC rs551083482
- TOPMed rs551083482
- gnomAD rs551083482
- Missense
- Variant Prioritization Score for Impact Estimate 0.616
- REVEL 0.51
- CADD 24.60
- PolyPhen-2 0.63
- SIFT 0.17
- Population evidence available
- Structural context available