E7G (p.Glu7Gly) variant of MMACHC (Q9Y4U1)
E7G (p.Glu7Gly) in MMACHC (Q9Y4U1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
E7G (p.Glu7Gly) variant details
- p.Glu7Gly
- gnomAD 1-45500352-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.52
- REVEL 0.57
- MetaLR 0.77
- MetaSVM 0.56
- CADD 25.00
- PolyPhen-2 0.20
- SIFT 0.16
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available