P52Q (p.Pro52Gln) variant of MOG (Q16653)
P52Q (p.Pro52Gln) 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, published literature, and structural context.
P52Q (p.Pro52Gln) variant details
- p.Pro52Gln
- gnomAD 6-29659385-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- REVEL 0.36
- CADD 23.70
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available