E33del (p.Glu33del) variant of MMACHC (Q9Y4U1)
E33del (p.Glu33del) in MMACHC (Q9Y4U1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
E33del (p.Glu33del) variant details
- gnomAD 1-45507370-TGAA-T
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.365
- CADD 20.70
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available