Q47H (p.Gln47His) variant of SCN10A (Q9Y5Y9)
Q47H (p.Gln47His) in SCN10A (Q9Y5Y9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
Q47H (p.Gln47His) variant details
- p.Gln47His
- TOPMed rs2064317862
- gnomAD rs2064317862
- Missense
- Variant Prioritization Score for Impact Estimate 0.297
- REVEL 0.35
- MetaLR 0.69
- MetaSVM 0.01
- CADD 9.21
- SIFT 0.04
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available