V49M (p.Val49Met) variant of MOG (Q16653)
V49M (p.Val49Met) in MOG (Q16653) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
V49M (p.Val49Met) variant details
- p.Val49Met
- ExAC rs772760184
- gnomAD rs772760184
- Missense
- Variant Prioritization Score for Impact Estimate 0.58
- REVEL 0.47
- CADD 22.90
- PolyPhen-2 0.84
- SIFT 0.03
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available