S26G (p.Ser26Gly) variant of KCNH2 (hERG)
S26G (p.Ser26Gly) 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; Long QT syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S26G (p.Ser26Gly) variant details
- p.Ser26Gly
- rs1802015752
- ClinGen CA369866596
- ClinVar RCV001841151
- ClinVar RCV002560988
- Uncertain significance
- Cardiac arrhythmia; Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- REVEL 0.40
- ESM-1b 0.86
- AlphaMissense 0.09
- MetaLR 0.86
- MetaSVM 0.64
- CADD 24.60
- ClinVar: Uncertain significance (Cardiac arrhythmia; Long QT syndrome)
- EBI: Variant of uncertain significance (in LQT2)
- UniProt: Uncertain significance (in LQT2)
- Population evidence available
- Structural context available
- Scores from cell surface expression deep mutational scan of KCNH2 in HEK293T cel: score 86.2
- 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)