D47E (p.Asp47Glu) variant of MOG (Q16653)
D47E (p.Asp47Glu) in MOG (Q16653) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
D47E (p.Asp47Glu) variant details
- p.Asp47Glu
- TOPMed rs1305283503
- gnomAD rs1305283503
- Missense
- Variant Prioritization Score for Impact Estimate 0.0783
- REVEL 0.03
- CADD 8.04
- PolyPhen-2 0.03
- SIFT 1.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available