P18L (p.Pro18Leu) variant of SCN10A (Q9Y5Y9)
P18L (p.Pro18Leu) in SCN10A (Q9Y5Y9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not provided; Brugada syndrome; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
P18L (p.Pro18Leu) variant details
- p.Pro18Leu
- rs190176472
- ClinGen CA2321311
- cosmic curated COSV71860
- ClinVar RCV000841266
- Benign/Likely benign
- not provided; Brugada syndrome; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.614
- REVEL 0.52
- MetaLR 0.85
- MetaSVM 0.77
- CADD 22.90
- PolyPhen-2 0.82
- SIFT 0.12
- ClinVar: Benign/Likely benign (not provided; Brugada syndrome; Cardiovascular phenotype)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:TU population (allele frequency 0.05)
- 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)