I19T (p.Ile19Thr) variant of KCNH2 (hERG)
I19T (p.Ile19Thr) in KCNH2 (hERG) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Long QT syndrome 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes experimental measurements, published literature, and structural context.
I19T (p.Ile19Thr) variant details
- p.Ile19Thr
- rs1802016246
- ClinVar RCV004595409
- Uncertain significance
- not provided; Long QT syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.844
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.08
- CADD 27.20
- PolyPhen-2 0.04
- ClinVar: Uncertain significance (not provided; Long QT syndrome 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Scores from cell surface expression deep mutational scan of KCNH2 in HEK293T cel: score 0
- Cited in: Long QT Syndrome Overview. (PMID 20301308)
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)