T107S (p.Thr107Ser) variant of SCN10A (Q9Y5Y9)
T107S (p.Thr107Ser) 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; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
T107S (p.Thr107Ser) variant details
- p.Thr107Ser
- rs757050845
- ClinGen CA2321251
- cosmic curated COSV10536
- ClinVar RCV000699094
- Uncertain significance
- Brugada syndrome; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.626
- REVEL 0.54
- MetaLR 0.90
- MetaSVM 0.75
- CADD 24.80
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Brugada syndrome; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-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)