E2V (p.Glu2Val) variant of MMACHC (Q9Y4U1)
E2V (p.Glu2Val) in MMACHC (Q9Y4U1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
E2V (p.Glu2Val) variant details
- p.Glu2Val
- 1000Genomes rs543492649
- ExAC rs543492649
- gnomAD rs543492649
- Missense
- Variant Prioritization Score for Impact Estimate 0.547
- REVEL 0.48
- CADD 26.20
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available