E50K (p.Glu50Lys) variant of MOG (Q16653)
E50K (p.Glu50Lys) 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 0.46 / 1. The record also includes population frequency data and structural context.
E50K (p.Glu50Lys) variant details
- p.Glu50Lys
- rs760213820
- NCI-TCGA Cosmic COSV6532
- cosmic curated COSV65320
- ExAC rs760213820
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.464
- REVEL 0.34
- CADD 24.00
- PolyPhen-2 1.00
- SIFT 0.20
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.6e-05)
- Structural context available