V1323G (p.Val1323Gly) variant of SCN5A (Nav1.5)
V1323G (p.Val1323Gly) in SCN5A (Nav1.5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Brugada syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
V1323G (p.Val1323Gly) variant details
- p.Val1323Gly
- rs199473221
- ClinGen CA017672
- ClinVar RCV000058617
- UniProt VAR 074423
- Likely pathogenic
- Brugada syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.932
- AlphaMissense 0.96
- MetaLR 0.98
- MetaSVM 1.02
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.77
- ClinVar: Likely pathogenic (Brugada syndrome)
- EBI: Variant of uncertain significance (in BRGDA1)
- UniProt: Uncertain significance (in BRGDA1)
- Structural context available
- Cited in: An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada… (PMID 20129283)
- Cited in: Brugada Syndrome. (PMID 20301690)