T74P (p.Thr74Pro) variant of KCNH2 (hERG)
T74P (p.Thr74Pro) in KCNH2 (hERG) is a missense change. The available record places it in the context of Congenital long QT syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes experimental measurements, published literature, and structural context.
T74P (p.Thr74Pro) variant details
- p.Thr74Pro
- rs199473666
- ClinGen CA006352
- ClinVar RCV000058095
- UniProt VAR 074786
- not provided
- Congenital long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.907
- ESM-1b 1.00
- AlphaMissense 0.93
- MetaLR 0.99
- MetaSVM 1.03
- CADD 29.70
- PolyPhen-2 0.86
- ClinVar: not provided (Congenital long QT syndrome)
- EBI: Variant of uncertain significance (in LQT2)
- UniProt: Uncertain significance (in LQT2)
- Structural context available
- Scores from cell surface expression deep mutational scan of KCNH2 in HEK293T cel: 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: C-terminal HERG mutations: the role of hypokalemia and a KCNQ1-associated mutation in cardiac event occurrence. (PMID 10086971)