S5L (p.Ser5Leu) variant of MOG (Q16653)
S5L (p.Ser5Leu) 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 0.09 / 1. The record also includes population frequency data and structural context.
S5L (p.Ser5Leu) variant details
- p.Ser5Leu
- rs762765531
- cosmic curated COSV10653
- ExAC rs762765531
- TOPMed rs762765531
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.0887
- REVEL 0.06
- MetaLR 0.01
- MetaSVM -0.98
- CADD 1.80
- PolyPhen-2 0.00
- SIFT 0.75
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available