L39C (p.Leu39Cys) variant of MCM5 (P33992)
L39C (p.Leu39Cys) 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.
L39C (p.Leu39Cys) variant details
- p.Leu39Cys
- rs1315986075
- gnomAD 22-35400551-TC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.627
- CADD 26.70
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available