R90W (p.Arg90Trp) variant of SCN10A (Q9Y5Y9)
R90W (p.Arg90Trp) in SCN10A (Q9Y5Y9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Cardiovascular phenotype; not specified; Brugada syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
R90W (p.Arg90Trp) variant details
- p.Arg90Trp
- rs144270136
- ClinGen CA2321271
- cosmic curated COSV10753
- ClinVar RCV000228334
- Benign/Likely benign
- Cardiovascular phenotype; not specified; Brugada syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.57
- REVEL 0.67
- MetaLR 0.73
- MetaSVM 0.53
- CADD 26.30
- PolyPhen-2 0.93
- SIFT 0.01
- ClinVar: Benign/Likely benign (Cardiovascular phenotype; not specified; Brugada syndrome)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:OROQEN population (allele frequency 0.19)
- 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)