P53R (p.Pro53Arg) variant of SCN10A (Q9Y5Y9)
P53R (p.Pro53Arg) in SCN10A (Q9Y5Y9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Episodic pain syndrome, familial, 2; Cardiovascular phenotype; Brugada syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
P53R (p.Pro53Arg) variant details
- p.Pro53Arg
- rs752235456
- ClinGen CA2321294
- ClinVar RCV001921936
- ClinVar RCV002397833
- Uncertain significance
- Episodic pain syndrome, familial, 2; Cardiovascular phenotype; Brugada syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.79
- REVEL 0.76
- MetaLR 0.95
- MetaSVM 1.10
- CADD 25.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Episodic pain syndrome, familial, 2; Cardiovascular phenotype; B)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-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)