C44Y (p.Cys44Tyr) variant of KCNH2 (hERG)
C44Y (p.Cys44Tyr) in KCNH2 (hERG) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Long QT syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes experimental measurements, published literature, and structural context.
C44Y (p.Cys44Tyr) variant details
- p.Cys44Tyr
- rs199473489
- ClinGen CA369865856
- ClinVar RCV001581933
- ClinVar RCV003533011
- Conflicting interpretations
- not provided; Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.98
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 1.01
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.92
- ClinVar: Conflicting classifications of pathogenicity (not provided; Long QT syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)