P18S (p.Pro18Ser) variant of SCN10A (Q9Y5Y9)
P18S (p.Pro18Ser) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
P18S (p.Pro18Ser) variant details
- p.Pro18Ser
- rs1322802155
- ClinGen CA352163382
- ClinVar RCV003086340
- gnomAD rs1322802155
- Uncertain significance
- Brugada syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.574
- REVEL 0.45
- MetaLR 0.83
- MetaSVM 0.90
- CADD 22.40
- PolyPhen-2 0.66
- SIFT 0.08
- ClinVar: Uncertain significance (Brugada syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.5e-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)