G35S (p.Gly35Ser) variant of SCN5A (Q14524)
G35S (p.Gly35Ser) in SCN5A (Q14524) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiac arrhythmia; Cardiovascular phenotype; SCN5A-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
G35S (p.Gly35Ser) variant details
- p.Gly35Ser
- rs199473552
- ClinGen CA014210
- cosmic curated COSV60067
- ClinVar RCV000058384
- Conflicting interpretations
- Cardiac arrhythmia; Cardiovascular phenotype; SCN5A-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.181
- REVEL 0.21
- CADD 3.97
- PolyPhen-2 0.00
- SIFT 0.29
- ClinVar: Conflicting classifications of pathogenicity (Cardiac arrhythmia; Cardiovascular phenotype; SCN5A-related diso)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Middle Eastern population (allele frequency 0.00018)
- 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)