I30T (p.Ile30Thr) variant of KCNH2 (hERG)
I30T (p.Ile30Thr) 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 0.87 / 1. The record also includes experimental measurements, published literature, and structural context.
I30T (p.Ile30Thr) variant details
- p.Ile30Thr
- rs199472832
- ClinGen CA008968
- ClinVar RCV000058270
- ClinVar RCV000690304
- Uncertain significance
- Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.871
- AlphaMissense 0.98
- MetaLR 0.95
- MetaSVM 1.09
- PolyPhen-2 0.03
- SIFT 0.00
- MutPred 0.85
- ClinVar: Uncertain significance (Long QT syndrome)
- EBI: Variant of uncertain significance (in LQT2)
- UniProt: Uncertain significance (in LQT2)
- Structural context available
- KCNH2 MAVE Trafficking Scores: score 0
- Cited in: Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long… (PMID 19716085)
- Cited in: Long QT Syndrome Overview. (PMID 20301308)