Y43D (p.Tyr43Asp) variant of KCNH2 (hERG)
Y43D (p.Tyr43Asp) in KCNH2 (hERG) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Short QT syndrome type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes experimental measurements, published literature, and structural context.
Y43D (p.Tyr43Asp) variant details
- p.Tyr43Asp
- rs199472837
- ClinGen CA004378
- ClinVar RCV000057884
- ClinVar RCV002247455
- Pathogenic
- Short QT syndrome type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.91
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.08
- PolyPhen-2 0.13
- SIFT 0.00
- MutPred 0.94
- ClinVar: Pathogenic (Short QT syndrome type 1)
- EBI: Pathogenic (in LQT2)
- UniProt: Pathogenic (in LQT2)
- Structural context available
- KCNH2 MAVE Trafficking Scores: score 96.6
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)
- Cited in: Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited… (PMID 23994779)