V7A (p.Val7Ala) variant of KCNJ10 (P78508)
V7A (p.Val7Ala) 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 0.65 / 1. The record also includes population frequency data.
V7A (p.Val7Ala) variant details
- p.Val7Ala
- rs1440235554
- ClinGen CA343231285
- ClinVar RCV001338938
- TOPMed rs1440235554
- Uncertain significance
- EAST syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.647
- CADD 26.90
- PolyPhen-2 0.94
- SIFT 0.00
- ClinVar: Uncertain significance (EAST syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available