A73V (p.Ala73Val) variant of KCNJ10 (P78508)
A73V (p.Ala73Val) 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 0.76 / 1. The record also includes population frequency data.
A73V (p.Ala73Val) variant details
- p.Ala73Val
- rs758441824
- NCI-TCGA Cosmic COSV6363
- cosmic curated COSV63632
- ExAC rs758441824
- Uncertain significance
- EAST syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.763
- CADD 24.00
- PolyPhen-2 0.75
- SIFT 0.16
- ClinVar: Uncertain significance (EAST syndrome)
- UniProt: Uncertain significance
- Population evidence available