E22V (p.Glu22Val) variant of MMACHC (Q9Y4U1)
E22V (p.Glu22Val) in MMACHC (Q9Y4U1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
E22V (p.Glu22Val) variant details
- p.Glu22Val
- ExAC rs781106513
- gnomAD rs781106513
- Missense
- Variant Prioritization Score for Impact Estimate 0.836
- REVEL 0.95
- CADD 32.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available