Q27R (p.Gln27Arg) variant of SCN10A (Q9Y5Y9)
Q27R (p.Gln27Arg) in SCN10A (Q9Y5Y9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; Brugada syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
Q27R (p.Gln27Arg) variant details
- p.Gln27Arg
- cosmic curated COSV71862
- ESP rs367571651
- ExAC rs367571651
- TOPMed rs367571651
- Conflicting interpretations
- Cardiovascular phenotype; Brugada syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.233
- REVEL 0.26
- MetaLR 0.30
- MetaSVM -0.37
- CADD 9.56
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; Brugada syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 0.0001)
- Structural context available