N45Y (p.Asn45Tyr) variant of KCNH2 (hERG)
N45Y (p.Asn45Tyr) 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 0.90 / 1. The record also includes experimental measurements, published literature, and structural context.
N45Y (p.Asn45Tyr) variant details
- p.Asn45Tyr
- rs199472839
- ClinGen CA004504
- ClinVar RCV000057896
- UniProt VAR 074771
- not provided
- Congenital long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.895
- AlphaMissense 0.96
- MetaLR 1.00
- MetaSVM 1.03
- PolyPhen-2 0.09
- SIFT 0.00
- MutPred 0.83
- 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 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)