R54H (p.Arg54His) variant of MOG (Q16653)
R54H (p.Arg54His) in MOG (Q16653) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
R54H (p.Arg54His) variant details
- p.Arg54His
- rs530507776
- NCI-TCGA Cosmic COSV1009
- cosmic curated COSV10097
- 1000Genomes rs530507776
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- REVEL 0.14
- CADD 16.80
- PolyPhen-2 0.02
- SIFT 1.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available