A29V (p.Ala29Val) variant of SCN5A (Nav1.5)
A29V (p.Ala29Val) in SCN5A (Nav1.5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of SCN5A-related disorder; Cardiovascular phenotype; Cardiac arrhythmia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
A29V (p.Ala29Val) variant details
- p.Ala29Val
- rs562675882
- ClinGen CA019875
- cosmic curated COSV10002
- ClinVar RCV000182921
- Uncertain significance
- SCN5A-related disorder; Cardiovascular phenotype; Cardiac arrhythmia
- Missense
- Variant Prioritization Score for Impact Estimate 0.497
- REVEL 0.56
- ESM-1b 0.76
- AlphaMissense 0.11
- MetaLR 0.66
- MetaSVM 0.29
- CADD 18.38
- ClinVar: Uncertain significance (SCN5A-related disorder; Cardiovascular phenotype; Cardiac arrhyt)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)
- Cited in: Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited… (PMID 23994779)