T17I (p.Thr17Ile) variant of KCNH2 (hERG)
T17I (p.Thr17Ile) in KCNH2 (hERG) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Long QT syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes experimental measurements, published literature, and structural context.
T17I (p.Thr17Ile) variant details
- p.Thr17Ile
- rs2117072638
- ClinGen CA369866679
- ClinVar RCV001974163
- Ensembl rs2117072638
- Uncertain significance
- Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.804
- AlphaMissense 0.78
- MetaLR 0.96
- MetaSVM 1.12
- PolyPhen-2 0.00
- SIFT 0.07
- MutPred 0.46
- ClinVar: Uncertain significance (Long QT syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- KCNH2 MAVE Trafficking Scores: score 110
- Cited in: Long QT Syndrome Overview. (PMID 20301308)
- Cited in: Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited… (PMID 23994779)