Y54H (p.Tyr54His) variant of KCNH2 (hERG)
Y54H (p.Tyr54His) in KCNH2 (hERG) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; Long QT syndrome; Long QT syndrome 2. 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.
Y54H (p.Tyr54His) variant details
- p.Tyr54His
- rs199472843
- ClinGen CA004937
- ClinVar RCV000057932
- ClinVar RCV001854195
- Conflicting interpretations
- Cardiovascular phenotype; Long QT syndrome; Long QT syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.904
- ESM-1b 1.00
- AlphaMissense 0.90
- MetaLR 0.99
- MetaSVM 1.05
- CADD 28.40
- PolyPhen-2 0.99
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; Long QT syndrome; Long QT syndrome 2)
- EBI: Likely pathogenic (in LQT2)
- UniProt: Likely pathogenic (in LQT2)
- Structural context available
- Scores from cell surface expression deep mutational scan of KCNH2 in HEK293T cel: score 75
- Cited in: Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long… (PMID 19716085)
- Cited in: Long QT Syndrome Overview. (PMID 20301308)