D67G (p.Asp67Gly) variant of KCNH2 (hERG)
D67G (p.Asp67Gly) 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 0.78 / 1. The record also includes experimental measurements, published literature, and structural context.
D67G (p.Asp67Gly) variant details
- p.Asp67Gly
- rs1801935588
- ClinGen CA369865634
- ClinVar RCV001352272
- Ensembl rs1801935588
- Uncertain significance
- Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.784
- AlphaMissense 0.33
- MetaLR 0.97
- MetaSVM 1.07
- PolyPhen-2 0.69
- SIFT 0.01
- MutPred 0.65
- ClinVar: Uncertain significance (Long QT syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- KCNH2 MAVE Trafficking Scores: score 16.4
- 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)