I5T (p.Ile5Thr) variant of SCN10A (Q9Y5Y9)
I5T (p.Ile5Thr) in SCN10A (Q9Y5Y9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; not specified; Brugada syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
I5T (p.Ile5Thr) variant details
- p.Ile5Thr
- rs557317287
- ClinGen CA2321321
- ClinVar RCV001873852
- ClinVar RCV002388709
- Uncertain significance
- Cardiovascular phenotype; not specified; Brugada syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- REVEL 0.26
- MetaLR 0.63
- MetaSVM -0.17
- CADD 14.20
- PolyPhen-2 0.01
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; not specified; Brugada syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- 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)