A2V (p.Ala2Val) variant of MOG (Q16653)
A2V (p.Ala2Val) in MOG (Q16653) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- gnomAD 6-29657214-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.163
- REVEL 0.07
- MetaLR 0.03
- MetaSVM -1.08
- CADD 16.50
- PolyPhen-2 0.01
- SIFT 0.10
- Population evidence available
- Structural context available
- Literature evidence available