C12Y (p.Cys12Tyr) variant of MOG (Q16653)
C12Y (p.Cys12Tyr) in MOG (Q16653) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. 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.
C12Y (p.Cys12Tyr) variant details
- p.Cys12Tyr
- TOPMed rs1199948910
- gnomAD rs1199948910
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.03
- MetaLR 0.01
- MetaSVM -0.99
- CADD 1.74
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 7.4e-05)
- Structural context available