T100N (p.Thr100Asn) variant of SCN10A (Q9Y5Y9)
T100N (p.Thr100Asn) 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; Episodic pain syndrome, familial, 2. 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.
T100N (p.Thr100Asn) variant details
- p.Thr100Asn
- rs758035498
- ClinGen CA72962609
- ClinVar RCV001206709
- ClinVar RCV002484116
- Uncertain significance
- Brugada syndrome; Cardiovascular phenotype; Episodic pain syndrome, familial, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.631
- REVEL 0.44
- MetaLR 0.91
- MetaSVM 0.97
- CADD 24.70
- PolyPhen-2 0.90
- SIFT 0.00
- ClinVar: Uncertain significance (Brugada syndrome; Cardiovascular phenotype; Episodic pain syndro)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 9.7e-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)