E3E (p.Glu3Glu) variant of MCM2 (P49736)
E3E (p.Glu3Glu) in MCM2 (P49736) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
E3E (p.Glu3Glu) variant details
- p.Glu3Glu
- gnomAD 3-127599320-A-G
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.188
- CADD 15.20
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available