D22del (p.Asp22del) variant of MCM5 (P33992)
D22del (p.Asp22del) in MCM5 (P33992) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
D22del (p.Asp22del) variant details
- gnomAD 22-35400500-CCGA-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.473
- CADD 22.70
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available