Y11L (p.Tyr11Leu) variant of MCM5 (P33992)
Y11L (p.Tyr11Leu) in MCM5 (P33992) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
Y11L (p.Tyr11Leu) variant details
- p.Tyr11Leu
- rs1569061941
- gnomAD 22-35400463-A-AT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.314
- CADD 33.00
- Population evidence available
- Structural context available
- Literature evidence available