E23G (p.Glu23Gly) variant of MCM5 (P33992)
E23G (p.Glu23Gly) in MCM5 (P33992) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
E23G (p.Glu23Gly) variant details
- p.Glu23Gly
- gnomAD 22-35400505-GA-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.634
- CADD 32.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available