P84L (p.Pro84Leu) variant of SCN10A (Q9Y5Y9)
P84L (p.Pro84Leu) in SCN10A (Q9Y5Y9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Cardiovascular phenotype; Brugada syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
P84L (p.Pro84Leu) variant details
- p.Pro84Leu
- rs140609990
- ClinGen CA2321275
- cosmic curated COSV10471
- ClinVar RCV001443889
- Conflicting interpretations
- not provided; Cardiovascular phenotype; Brugada syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.648
- REVEL 0.66
- MetaLR 0.90
- MetaSVM 1.04
- CADD 24.20
- PolyPhen-2 0.35
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Cardiovascular phenotype; Brugada syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- 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)