S102C (p.Ser102Cys) variant of SCN10A (Q9Y5Y9)
S102C (p.Ser102Cys) in SCN10A (Q9Y5Y9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Brugada syndrome; not provided; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
S102C (p.Ser102Cys) variant details
- p.Ser102Cys
- rs866597161
- ClinGen CA352161306
- ClinVar RCV001732556
- ClinVar RCV003298957
- Uncertain significance
- Brugada syndrome; not provided; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.556
- REVEL 0.56
- MetaLR 0.78
- MetaSVM 0.56
- CADD 24.60
- PolyPhen-2 0.70
- SIFT 0.00
- ClinVar: Uncertain significance (Brugada syndrome; not provided; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- 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)