R48H (p.Arg48His) variant of KCNJ10 (P78508)
R48H (p.Arg48His) in KCNJ10 (P78508) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of EAST syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data.
R48H (p.Arg48His) variant details
- p.Arg48His
- rs201907875
- ClinGen CA1193288
- ClinVar RCV003117002
- 1000Genomes rs201907875
- Uncertain significance
- EAST syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.614
- CADD 17.60
- PolyPhen-2 0.38
- SIFT 0.56
- ClinVar: Uncertain significance (EAST syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available