R52Q (p.Arg52Gln) variant of SCN10A (Nav1.8)
R52Q (p.Arg52Gln) in SCN10A (Nav1.8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
R52Q (p.Arg52Gln) variant details
- p.Arg52Gln
- rs778340868
- ClinGen CA2321296
- ClinVar RCV002405379
- ClinVar RCV005254084
- Uncertain significance
- not provided; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.498
- REVEL 0.30
- MetaLR 0.85
- MetaSVM 0.55
- CADD 23.00
- PolyPhen-2 0.99
- SIFT 0.16
- ClinVar: Uncertain significance (not provided; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available