R11G (p.Arg11Gly) variant of KCNB1 (Q14721)
R11G (p.Arg11Gly) in KCNB1 (Q14721) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
R11G (p.Arg11Gly) variant details
- p.Arg11Gly
- TOPMed rs1042622178
- gnomAD rs1042622178
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.669
- REVEL 0.59
- CADD 27.50
- PolyPhen-2 0.88
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.5e-07)
- Structural context available