R36L (p.Arg36Leu) variant of KCNJ10 (P78508)
R36L (p.Arg36Leu) in KCNJ10 (P78508) 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 0.78 / 1. The record also includes population frequency data.
R36L (p.Arg36Leu) variant details
- p.Arg36Leu
- ExAC rs779913708
- TOPMed rs779913708
- gnomAD rs779913708
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.782
- CADD 25.60
- PolyPhen-2 0.91
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available