A29V (p.Ala29Val) variant of SCN5A (Q14524)
A29V (p.Ala29Val) in SCN5A (Q14524) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Cardiac arrhythmia; SCN5A-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 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
- Cardiovascular phenotype; Cardiac arrhythmia; SCN5A-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- REVEL 0.56
- CADD 22.50
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Uncertain significance (Cardiovascular phenotype; Cardiac arrhythmia; SCN5A-related diso)
- 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)