D16G (p.Asp16Gly) variant of KCNH2 (hERG)
D16G (p.Asp16Gly) 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; Long QT syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes experimental measurements, published literature, and structural context.
D16G (p.Asp16Gly) variant details
- p.Asp16Gly
- rs199472825
- ClinGen CA369866692
- ClinVar RCV003311165
- ClinVar RCV003647973
- Uncertain significance
- Cardiovascular phenotype; Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.877
- AlphaMissense 0.98
- MetaLR 0.94
- MetaSVM 0.98
- PolyPhen-2 0.02
- SIFT 0.06
- MutPred 0.89
- ClinVar: Uncertain significance (Cardiovascular phenotype; Long QT syndrome)
- EBI: Variant of uncertain significance (in LQT2)
- UniProt: Uncertain significance (in LQT2)
- Structural context available
- KCNH2 MAVE Trafficking Scores: score 98.8
- 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)