E71* (p.Glu71Ter) variant of MCM2 (P49736)
E71* (p.Glu71Ter) in MCM2 (P49736) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
E71* (p.Glu71Ter) variant details
- p.Glu71Ter
- gnomAD 3-127599522-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.866
- CADD 39.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available