P78A (p.Pro78Ala) variant of SCN10A (Q9Y5Y9)
P78A (p.Pro78Ala) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
P78A (p.Pro78Ala) variant details
- p.Pro78Ala
- rs753292241
- ClinGen CA2321277
- ClinVar RCV002448188
- ClinVar RCV003098805
- Uncertain significance
- Brugada syndrome; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.728
- REVEL 0.82
- MetaLR 0.97
- MetaSVM 1.09
- CADD 24.80
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (Brugada syndrome; Cardiovascular phenotype)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 1.7e-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)