G1319V (p.Gly1319Val) variant of SCN5A (Nav1.5)
G1319V (p.Gly1319Val) in SCN5A (Nav1.5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Cardiac arrhythmia; Cardiovascular phenotype; Brugada syndrome (shorter-than-nor. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data, published literature, and structural context.
G1319V (p.Gly1319Val) variant details
- p.Gly1319Val
- rs199473220
- ClinGen CA017654
- ClinVar RCV000058616
- ClinVar RCV000252945
- Pathogenic/Likely pathogenic
- Cardiac arrhythmia; Cardiovascular phenotype; Brugada syndrome (shorter-than-nor
- Missense
- Variant Prioritization Score for Impact Estimate 0.918
- AlphaMissense 0.97
- MetaLR 0.98
- MetaSVM 1.01
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.73
- ClinVar: Pathogenic/Likely pathogenic (Cardiac arrhythmia; Cardiovascular phenotype; Brugada syndrome ()
- EBI: Pathogenic (in BRGDA1)
- UniProt: Pathogenic (in BRGDA1)
- Population evidence available
- Structural context available
- Cited in: Genotype-phenotype relationship in Brugada syndrome: electrocardiographic features differentiate SCN5A-related patients… (PMID 12106943)
- Cited in: Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium… (PMID 19251209)