S818W (p.Ser818Trp) variant of KCNH2 (hERG)
S818W (p.Ser818Trp) in KCNH2 (hERG) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Long QT syndrome; Cardiac arrhythmia. 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.
S818W (p.Ser818Trp) variant details
- p.Ser818Trp
- rs121912510
- ClinGen CA369855233
- ClinVar RCV003592261
- ClinVar RCV004011468
- Likely pathogenic
- Long QT syndrome; Cardiac arrhythmia
- Missense
- Variant Prioritization Score for Impact Estimate 0.942
- AlphaMissense 0.95
- MetaLR 0.95
- MetaSVM 1.11
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.89
- ClinVar: Likely pathogenic (Long QT syndrome; Cardiac arrhythmia)
- EBI: Likely pathogenic (in LQT2)
- UniProt: Likely pathogenic (in LQT2)
- Structural context available
- KCNH2 MAVE Trafficking Scores: score 0
- 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)