L65A (p.Leu65Ala) variant of MCM5 (P33992)
L65A (p.Leu65Ala) in MCM5 (P33992) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
L65A (p.Leu65Ala) variant details
- p.Leu65Ala
- gnomAD 22-35401396-C-CT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.122
- CADD 5.79
- Population evidence available
- Structural context available
- Literature evidence available