N629S (p.Asn629Ser) variant of KCNH2 (hERG)
N629S (p.Asn629Ser) in KCNH2 (hERG) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of KCNH2-related disorder; not provided; Long QT syndrome 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes experimental measurements, published literature, and structural context.
N629S (p.Asn629Ser) variant details
- p.Asn629Ser
- rs199472957
- ClinGen CA005852
- ClinVar RCV000058034
- ClinVar RCV000181823
- Pathogenic
- KCNH2-related disorder; not provided; Long QT syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.939
- AlphaMissense 1.00
- MetaLR 0.92
- MetaSVM 0.96
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.94
- ClinVar: Pathogenic (KCNH2-related disorder; not provided; Long QT syndrome 2)
- EBI: Pathogenic (in LQT2)
- UniProt: Pathogenic (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: Multiple different missense mutations in the pore region of HERG in patients with long QT syndrome. (PMID 9544837)