Q32R (p.Gln32Arg) variant of SCN10A (Q9Y5Y9)
Q32R (p.Gln32Arg) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
Q32R (p.Gln32Arg) variant details
- p.Gln32Arg
- rs2064318777
- ClinGen CA352163195
- ClinVar RCV002031004
- TOPMed rs2064318777
- Uncertain significance
- Brugada syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.204
- REVEL 0.20
- MetaLR 0.69
- MetaSVM -0.16
- CADD 1.10
- PolyPhen-2 0.00
- SIFT 0.42
- ClinVar: Uncertain significance (Brugada syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)