E30G (p.Glu30Gly) variant of SCN5A (Nav1.5)
E30G (p.Glu30Gly) in SCN5A (Nav1.5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes published literature and structural context.
E30G (p.Glu30Gly) variant details
- p.Glu30Gly
- rs199473551
- ClinGen CA019935
- ClinVar RCV000058861
- ClinVar RCV003764739
- Uncertain significance
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.656
- ESM-1b 1.00
- AlphaMissense 0.12
- MetaLR 0.79
- MetaSVM 0.75
- CADD 22.50
- EVE 0.27
- ClinVar: Uncertain significance (not specified; not provided)
- 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)