E98K (p.Glu98Lys) variant of KCNJ10 (P78508)
E98K (p.Glu98Lys) 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 0.73 / 1. The record also includes population frequency data.
E98K (p.Glu98Lys) variant details
- p.Glu98Lys
- rs200054482
- ClinGen CA343228911
- ClinVar RCV001222843
- 1000Genomes rs200054482
- Uncertain significance
- EAST syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.734
- CADD 21.60
- PolyPhen-2 0.27
- SIFT 0.63
- ClinVar: Uncertain significance (EAST syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available