S115G (p.Ser115Gly) variant of SCN5A (Nav1.5)
S115G (p.Ser115Gly) in SCN5A (Nav1.5) is a missense change. The available record places it in the context of Congenital long QT syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes published literature and structural context.
S115G (p.Ser115Gly) variant details
- p.Ser115Gly
- rs199473057
- UniProt VAR 074700
- not provided
- Congenital long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.511
- ESM-1b 0.00
- AlphaMissense 0.16
- MetaLR 0.91
- MetaSVM 1.04
- CADD 24.80
- EVE 0.24
- ClinVar: not provided (Congenital long QT syndrome)
- EBI: Variant of uncertain significance (in LQT3)
- UniProt: Uncertain significance (in LQT3)
- Structural context available
- Cited in: Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long… (PMID 19716085)
- Cited in: Congenital long-QT syndrome caused by a novel mutation in a conserved acidic domain of the cardiac Na+ channel. (PMID 10377081)