N117H (p.Asn117His) variant of SCN10A (Q9Y5Y9)
N117H (p.Asn117His) in SCN10A (Q9Y5Y9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; not provided; Brugada syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
N117H (p.Asn117His) variant details
- p.Asn117His
- rs774462243
- ClinGen CA2321247
- ClinVar RCV001364144
- ClinVar RCV003319468
- Conflicting interpretations
- Cardiovascular phenotype; not provided; Brugada syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- REVEL 0.29
- MetaLR 0.75
- MetaSVM 0.12
- CADD 18.40
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; not provided; Brugada syndrome)
- EBI: Benign
- UniProt: Benign
- Most common in the East Asian population (allele frequency 0.0012)
- 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)