C53R (p.Cys53Arg) variant of MOG (Q16653)
C53R (p.Cys53Arg) in MOG (Q16653) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
C53R (p.Cys53Arg) variant details
- p.Cys53Arg
- ExAC rs753458439
- gnomAD rs753458439
- Missense
- Variant Prioritization Score for Impact Estimate 0.664
- REVEL 0.69
- CADD 26.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available