T34R (p.Thr34Arg) variant of SCN10A (Q9Y5Y9)
T34R (p.Thr34Arg) 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 provided; Brugada syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
T34R (p.Thr34Arg) variant details
- p.Thr34Arg
- rs1025338659
- ClinGen CA72963561
- ClinVar RCV001363942
- ClinVar RCV002261355
- Uncertain significance
- Cardiovascular phenotype; not provided; Brugada syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.263
- REVEL 0.21
- MetaLR 0.46
- MetaSVM -0.32
- CADD 2.55
- PolyPhen-2 0.01
- SIFT 0.40
- ClinVar: Uncertain significance (Cardiovascular phenotype; not provided; Brugada syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-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)