C66Y (p.Cys66Tyr) variant of KCNH2 (hERG)
C66Y (p.Cys66Tyr) in KCNH2 (hERG) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Long QT syndrome; Long QT syndrome 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes experimental measurements, published literature, and structural context.
C66Y (p.Cys66Tyr) variant details
- p.Cys66Tyr
- rs1554430943
- ClinGen CA369865648
- ClinVar RCV000656723
- ClinVar RCV002534252
- Conflicting interpretations
- Long QT syndrome; Long QT syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.961
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 1.00
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.80
- ClinVar: Conflicting classifications of pathogenicity (Long QT syndrome; Long QT syndrome 2)
- 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)