P78S (p.Pro78Ser) variant of SCN10A (Q9Y5Y9)
P78S (p.Pro78Ser) in SCN10A (Q9Y5Y9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Cardiovascular phenotype; Brugada syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
P78S (p.Pro78Ser) variant details
- p.Pro78Ser
- rs753292241
- ClinGen CA2321278
- ClinVar RCV000498801
- ClinVar RCV001237432
- Conflicting interpretations
- not provided; Cardiovascular phenotype; Brugada syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.764
- REVEL 0.89
- MetaLR 0.98
- MetaSVM 1.08
- CADD 25.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Cardiovascular phenotype; Brugada syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 0.00019)
- 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)