Q62E (p.Gln62Glu) variant of SCN10A (Nav1.8)
Q62E (p.Gln62Glu) in SCN10A (Nav1.8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
Q62E (p.Gln62Glu) variant details
- p.Gln62Glu
- gnomAD rs1251803173
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- REVEL 0.23
- MetaLR 0.75
- MetaSVM 0.12
- CADD 16.20
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available