D46E (p.Asp46Glu) variant of KCNH2 (hERG)
D46E (p.Asp46Glu) in KCNH2 (hERG) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Cardiac arrhythmia; Long QT syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
D46E (p.Asp46Glu) variant details
- p.Asp46Glu
- rs752503743
- ClinGen CA027854
- ClinVar RCV001843092
- ClinVar RCV001876025
- Uncertain significance
- Cardiovascular phenotype; Cardiac arrhythmia; Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.655
- REVEL 0.61
- CADD 23.00
- PolyPhen-2 0.02
- SIFT 0.18
- ClinVar: Uncertain significance (Cardiovascular phenotype; Cardiac arrhythmia; Long QT syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- KCNH2 MAVE Trafficking Scores: score 69.4
- 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)