P53L (p.Pro53Leu) variant of SCN10A (Q9Y5Y9)
P53L (p.Pro53Leu) 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 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
P53L (p.Pro53Leu) variant details
- p.Pro53Leu
- rs752235456
- ClinGen CA352162919
- NCI-TCGA Cosmic COSV7186
- cosmic curated COSV71861
- Uncertain significance
- Cardiovascular phenotype; Brugada syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.788
- REVEL 0.75
- MetaLR 0.96
- MetaSVM 1.10
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; Brugada syndrome)
- 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)