R54P (p.Arg54Pro) variant of MOG (Q16653)
R54P (p.Arg54Pro) in MOG (Q16653) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
R54P (p.Arg54Pro) variant details
- p.Arg54Pro
- cosmic curated COSV10592
- 1000Genomes rs530507776
- ExAC rs530507776
- TOPMed rs530507776
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- REVEL 0.34
- CADD 24.70
- PolyPhen-2 0.96
- SIFT 0.02
- Most common in the 1KG:ITU population (allele frequency 0.0098)
- Structural context available