P115L (p.Pro115Leu) variant of SCN10A (Q9Y5Y9)
P115L (p.Pro115Leu) 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 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
P115L (p.Pro115Leu) variant details
- p.Pro115Leu
- rs760579685
- ClinGen CA72962573
- NCI-TCGA Cosmic COSV7186
- cosmic curated COSV71862
- Uncertain significance
- Brugada syndrome; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.859
- REVEL 0.86
- MetaLR 0.95
- MetaSVM 1.10
- CADD 28.30
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (Brugada syndrome; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)