D95A (p.Asp95Ala) variant of KCNJ10 (P78508)
D95A (p.Asp95Ala) in KCNJ10 (P78508) is a missense change. Clinical records from ClinVar 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 0.66 / 1. The record also includes population frequency data.
D95A (p.Asp95Ala) variant details
- p.Asp95Ala
- gnomAD rs1281903569
- Uncertain significance
- EAST syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.657
- CADD 27.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (EAST syndrome)
- UniProt: Uncertain significance
- Population evidence available