A735V (p.Ala735Val) variant of SCN5A (Nav1.5)
A735V (p.Ala735Val) 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 Congenital long QT syndrome; Brugada syndrome 1; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
A735V (p.Ala735Val) variant details
- p.Ala735Val
- rs137854611
- ClinGen CA015951
- NCI-TCGA Cosmic COSV1003
- NCI-TCGA Cosmic COSV6114
- Pathogenic/Likely pathogenic
- Congenital long QT syndrome; Brugada syndrome 1; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.883
- REVEL 0.94
- AlphaMissense 0.98
- MetaLR 0.96
- MetaSVM 1.10
- CADD 24.70
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Congenital long QT syndrome; Brugada syndrome 1; not provided)
- EBI: Pathogenic (in BRGDA1 and SSS1)
- UniProt: Pathogenic (in BRGDA1 and SSS1)
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: Genetic and biophysical basis of sudden unexplained nocturnal death syndrome (SUNDS), a disease allelic to Brugada… (PMID 11823453)
- Cited in: An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada… (PMID 20129283)