D46N (p.Asp46Asn) variant of KCNH2 (hERG)
D46N (p.Asp46Asn) in KCNH2 (hERG) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiac arrhythmia; not provided; Long QT syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
D46N (p.Asp46Asn) variant details
- p.Asp46Asn
- rs794728408
- ClinGen CA004535
- ClinVar RCV000181928
- ClinVar RCV003532023
- Uncertain significance
- Cardiac arrhythmia; not provided; Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.853
- REVEL 0.82
- ESM-1b 1.00
- AlphaMissense 0.69
- MetaLR 0.98
- MetaSVM 1.06
- CADD 32.00
- ClinVar: Uncertain significance (Cardiac arrhythmia; not provided; Long QT syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Scores from cell surface expression deep mutational scan of KCNH2 in HEK293T cel: 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)