T2M (p.Thr2Met) variant of KCNJ10 (P78508)
T2M (p.Thr2Met) 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.
T2M (p.Thr2Met) variant details
- p.Thr2Met
- TOPMed rs1378425325
- gnomAD rs1378425325
- Uncertain significance
- EAST syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.544
- AlphaMissense 0.19
- MetaLR 0.34
- MetaSVM -0.44
- CADD 23.10
- PolyPhen-2 0.03
- SIFT 0.00
- ClinVar: Uncertain significance (EAST syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available