T58I (p.Thr58Ile) variant of KCNJ10 (P78508)
T58I (p.Thr58Ile) 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 0.78 / 1. The record also includes population frequency data and structural context.
T58I (p.Thr58Ile) variant details
- p.Thr58Ile
- rs768028468
- ClinGen CA1193285
- ClinVar RCV003618180
- ExAC rs768028468
- Uncertain significance
- EAST syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.784
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (EAST syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available