R42Q (p.Arg42Gln) variant of MOG (Q16653)
R42Q (p.Arg42Gln) in MOG (Q16653) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
R42Q (p.Arg42Gln) variant details
- p.Arg42Gln
- cosmic curated COSV65321
- 1000Genomes rs1384705677
- gnomAD rs1384705677
- Missense
- Variant Prioritization Score for Impact Estimate 0.185
- REVEL 0.07
- CADD 13.70
- PolyPhen-2 0.01
- SIFT 0.50
- Most common in the 1KG:ITU population (allele frequency 0.0049)
- Structural context available