P51A (p.Pro51Ala) variant of SCN10A (Q9Y5Y9)
P51A (p.Pro51Ala) 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; Brugada syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
P51A (p.Pro51Ala) variant details
- p.Pro51Ala
- rs368312678
- ClinGen CA72963535
- ClinVar RCV001060807
- ClinVar RCV002393298
- Uncertain significance
- Cardiovascular phenotype; Brugada syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- REVEL 0.29
- MetaLR 0.78
- MetaSVM 0.02
- CADD 0.13
- PolyPhen-2 0.00
- SIFT 0.05
- ClinVar: Uncertain significance (Cardiovascular phenotype; Brugada syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)