R54G (p.Arg54Gly) variant of MOG (Q16653)
R54G (p.Arg54Gly) in MOG (Q16653) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
R54G (p.Arg54Gly) variant details
- p.Arg54Gly
- ESP rs373194309
- TOPMed rs373194309
- gnomAD rs373194309
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- REVEL 0.29
- CADD 23.50
- PolyPhen-2 0.84
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available