S621N (p.Ser621Asn) variant of KCNH2 (hERG)
S621N (p.Ser621Asn) in KCNH2 (hERG) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Long QT syndrome; Primary familial hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes experimental measurements, published literature, and structural context.
S621N (p.Ser621Asn) variant details
- p.Ser621Asn
- rs199472948
- ClinGen CA005703
- ClinVar RCV000058017
- ClinVar RCV000845307
- Pathogenic/Likely pathogenic
- not provided; Long QT syndrome; Primary familial hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.929
- AlphaMissense 0.99
- MetaLR 0.97
- MetaSVM 1.09
- PolyPhen-2 0.59
- SIFT 0.00
- EVE 0.89
- ClinVar: Pathogenic/Likely pathogenic (not provided; Long QT syndrome; Primary familial hypertrophic ca)
- EBI: Pathogenic (in LQT2)
- UniProt: Pathogenic (in LQT2)
- Structural context available
- KCNH2 MAVE Trafficking Scores: score 48.8
- Cited in: Long QT Syndrome Overview. (PMID 20301308)
- Cited in: Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited… (PMID 23994779)