R54L (p.Arg54Leu) variant of MOG (Q16653)
R54L (p.Arg54Leu) in MOG (Q16653) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
R54L (p.Arg54Leu) variant details
- p.Arg54Leu
- 1000Genomes rs530507776
- ExAC rs530507776
- TOPMed rs530507776
- gnomAD rs530507776
- Missense
- Variant Prioritization Score for Impact Estimate 0.374
- REVEL 0.31
- CADD 23.00
- PolyPhen-2 0.70
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available