Y9H (p.Tyr9His) variant of KCNJ10 (P78508)
Y9H (p.Tyr9His) 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 0.56 / 1. The record also includes population frequency data.
Y9H (p.Tyr9His) variant details
- p.Tyr9His
- rs2525431806
- ClinGen CA343231187
- ClinVar RCV002570850
- Uncertain significance
- EAST syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.563
- CADD 18.80
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (EAST syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available