N12D (p.Asn12Asp) variant of KCNH2 (hERG)
N12D (p.Asn12Asp) 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 0.73 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
N12D (p.Asn12Asp) variant details
- p.Asn12Asp
- rs1412463792
- ClinGen CA369866727
- ClinVar RCV002050417
- gnomAD rs1412463792
- Uncertain significance
- Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.728
- REVEL 0.68
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.98
- MetaSVM 1.10
- CADD 26.90
- ClinVar: Uncertain significance (Long QT syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00022)
- Structural context available
- Scores from cell surface expression deep mutational scan of KCNH2 in HEK293T cel: score 138
- 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)