G9V (p.Gly9Val) variant of SCN5A (Nav1.5)
G9V (p.Gly9Val) 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 provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
G9V (p.Gly9Val) variant details
- p.Gly9Val
- rs199473043
- ClinGen CA016420
- cosmic curated COSV60067
- ClinVar RCV000058520
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.727
- REVEL 0.83
- ESM-1b 0.67
- AlphaMissense 0.33
- MetaLR 0.75
- MetaSVM 0.67
- CADD 21.40
- ClinVar: Uncertain significance (not provided)
- EBI: Pathogenic (in LQT3)
- UniProt: Pathogenic (in LQT3)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT… (PMID 16922724)
- Cited in: Congenital long-QT syndrome caused by a novel mutation in a conserved acidic domain of the cardiac Na+ channel. (PMID 10377081)