D46G (p.Asp46Gly) variant of KCNH2 (hERG)
D46G (p.Asp46Gly) in KCNH2 (hERG) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Long QT syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes experimental measurements, published literature, and structural context.
D46G (p.Asp46Gly) variant details
- p.Asp46Gly
- rs2117063507
- ClinGen CA369865832
- ClinVar RCV001758260
- ClinVar RCV002032795
- Uncertain significance
- not provided; Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.896
- ESM-1b 1.00
- AlphaMissense 0.93
- MetaLR 0.98
- MetaSVM 1.05
- CADD 31.00
- PolyPhen-2 0.45
- ClinVar: Uncertain significance (not provided; Long QT syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)