R35W (p.Arg35Trp) variant of KCNH2 (hERG)
R35W (p.Arg35Trp) in KCNH2 (hERG) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of KCNH2-related disorder; 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.
R35W (p.Arg35Trp) variant details
- p.Arg35Trp
- rs2117063783
- ClinGen CA369865959
- ClinVar RCV001901315
- Ensembl rs2117063783
- Conflicting interpretations
- KCNH2-related disorder; Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.895
- ESM-1b 1.00
- AlphaMissense 0.76
- MetaLR 0.97
- MetaSVM 1.12
- CADD 32.00
- PolyPhen-2 0.97
- ClinVar: Conflicting classifications of pathogenicity (KCNH2-related disorder; Long QT syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Scores from cell surface expression deep mutational scan of KCNH2 in HEK293T cel: score 111
- 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)