R108W (p.Arg108Trp) variant of SCN10A (Q9Y5Y9)
R108W (p.Arg108Trp) in SCN10A (Q9Y5Y9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Brugada syndrome; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
R108W (p.Arg108Trp) variant details
- p.Arg108Trp
- rs1131691525
- ClinGen CA352161136
- NCI-TCGA Cosmic COSV7186
- cosmic curated COSV71862
- Uncertain significance
- not provided; Brugada syndrome; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.29
- MetaLR 0.72
- MetaSVM 0.02
- CADD 18.70
- PolyPhen-2 0.00
- SIFT 0.07
- ClinVar: Uncertain significance (not provided; Brugada syndrome; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00027)
- 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)