R54C (p.Arg54Cys) variant of MOG (Q16653)
R54C (p.Arg54Cys) in MOG (Q16653) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
R54C (p.Arg54Cys) variant details
- p.Arg54Cys
- ESP rs373194309
- TOPMed rs373194309
- gnomAD rs373194309
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- REVEL 0.32
- CADD 26.70
- PolyPhen-2 0.97
- SIFT 0.02
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available