T7I (p.Thr7Ile) variant of KCNE1 (P15382)
T7I (p.Thr7Ile) in KCNE1 (P15382) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Jervell and Lange-Nielsen syndrome 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
T7I (p.Thr7Ile) variant details
- p.Thr7Ile
- rs28933384
- ClinGen CA256863
- ClinVar RCV000014418
- ClinVar RCV000119076
- Pathogenic
- Jervell and Lange-Nielsen syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.65
- ESM-1b 0.31
- AlphaMissense 0.53
- MetaLR 0.89
- MetaSVM 1.05
- MutPred 0.32
- ClinVar: Pathogenic (Jervell and Lange-Nielsen syndrome 2)
- EBI: Pathogenic (in JLNS2)
- UniProt: Pathogenic (in JLNS2)
- Population evidence available
- Structural context available
- Trafficking scores for KCNE1 in the absence of KCNQ1: score 1.07
- Cited in: Post-translational N-glycosylation of type I transmembrane KCNE1 peptides: implications for membrane protein biogenesis… (PMID 21676880)
- Cited in: KCNE1 mutations cause jervell and Lange-Nielsen syndrome. (PMID 9354783)