C39Y (p.Cys39Tyr) variant of KCNH2 (hERG)
C39Y (p.Cys39Tyr) 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 0.99 / 1. The record also includes experimental measurements, published literature, and structural context.
C39Y (p.Cys39Tyr) variant details
- p.Cys39Tyr
- rs2486157018
- ClinGen CA369865909
- ClinVar RCV003648822
- Uncertain significance
- Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.994
- ESM-1b 1.00
- AlphaMissense 0.99
- ClinVar: Uncertain significance (Long QT syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Scores from arrayed automated patch clamp experiment for KCNH2: score 0.64
- 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)