H70N (p.His70Asn) variant of KCNH2 (hERG)
H70N (p.His70Asn) 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 0.78 / 1. The record also includes experimental measurements, published literature, and structural context.
H70N (p.His70Asn) variant details
- p.His70Asn
- rs199473418
- ClinGen CA006222
- ClinVar RCV000058082
- UniProt VAR 074781
- not provided
- Congenital long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.781
- AlphaMissense 0.29
- MetaLR 0.97
- MetaSVM 1.05
- PolyPhen-2 0.95
- SIFT 0.13
- MutPred 0.80
- ClinVar: not provided (Congenital long QT syndrome)
- EBI: Variant of uncertain significance (in LQT2)
- UniProt: Uncertain significance (in LQT2)
- Structural context available
- KCNH2 MAVE Trafficking Scores: score 100
- 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)