K28del (p.Lys28del) variant of MCM5 (P33992)
K28del (p.Lys28del) in MCM5 (P33992) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
K28del (p.Lys28del) variant details
- gnomAD 22-35400519-CAAA-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.428
- CADD 21.70
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available