T74I (p.Thr74Ile) variant of KCNJ10 (P78508)
T74I (p.Thr74Ile) in KCNJ10 (P78508) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; EAST syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data.
T74I (p.Thr74Ile) variant details
- p.Thr74Ile
- rs796052604
- ClinGen CA315263
- cosmic curated COSV63633
- ClinVar RCV000187806
- Conflicting interpretations
- not provided; EAST syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.782
- CADD 26.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; EAST syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available