Y42* (p.Tyr42Ter) variant of MCM5 (P33992)
Y42* (p.Tyr42Ter) in MCM5 (P33992) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
Y42* (p.Tyr42Ter) variant details
- p.Tyr42Ter
- ExAC rs763140069
- gnomAD rs763140069
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.748
- CADD 38.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available