A73T (p.Ala73Thr) variant of KCNJ10 (P78508)
A73T (p.Ala73Thr) 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 0.54 / 1. The record also includes population frequency data.
A73T (p.Ala73Thr) variant details
- p.Ala73Thr
- rs779548724
- ClinGen CA1193279
- ClinVar RCV001234667
- ExAC rs779548724
- Uncertain significance
- EAST syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.538
- AlphaMissense 0.13
- MetaLR 0.76
- MetaSVM 0.40
- PolyPhen-2 0.22
- SIFT 0.37
- EVE 0.15
- ClinVar: Uncertain significance (EAST syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available