E67A (p.Glu67Ala) variant of MCM5 (P33992)
E67A (p.Glu67Ala) in MCM5 (P33992) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
E67A (p.Glu67Ala) variant details
- p.Glu67Ala
- gnomAD 22-35401389-TGA-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.0965
- CADD 2.24
- Most common in the South Asian population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available