S55W (p.Ser55Trp) variant of KCNH2 (hERG)
S55W (p.Ser55Trp) in KCNH2 (hERG) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Long QT syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes experimental measurements, published literature, and structural context.
S55W (p.Ser55Trp) variant details
- p.Ser55Trp
- rs199472844
- ClinGen CA369865767
- ClinVar RCV003647723
- Uncertain significance
- Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.835
- AlphaMissense 0.59
- MetaLR 0.98
- MetaSVM 1.06
- PolyPhen-2 0.38
- SIFT 0.00
- MutPred 0.80
- ClinVar: Uncertain significance (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: 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)