T8I (p.Thr8Ile) variant of KCNE2 (Q9Y6J6)
T8I (p.Thr8Ile) in KCNE2 (Q9Y6J6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; KCNE2-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
T8I (p.Thr8Ile) variant details
- p.Thr8Ile
- rs35759083
- ClinGen CA10013386
- ClinVar RCV002450244
- UniProt VAR 037794
- Uncertain significance
- Cardiovascular phenotype; KCNE2-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.611
- REVEL 0.54
- ESM-1b 0.00
- AlphaMissense 0.67
- MetaLR 0.84
- MetaSVM 0.87
- CADD 23.60
- ClinVar: Uncertain significance (Cardiovascular phenotype; KCNE2-related disorder)
- EBI: Variant of uncertain significance (in dbSNP:rs35759083)
- UniProt: Uncertain significance (in dbSNP:rs35759083)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available