E22G (p.Glu22Gly) variant of MMACHC (Q9Y4U1)
E22G (p.Glu22Gly) in MMACHC (Q9Y4U1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
E22G (p.Glu22Gly) variant details
- p.Glu22Gly
- gnomAD 1-45500397-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.862
- REVEL 0.95
- MetaLR 0.95
- MetaSVM 1.09
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.39
- Population evidence available
- Structural context available
- Literature evidence available