R19* (p.Arg19Ter) variant of MCM2 (P49736)
R19* (p.Arg19Ter) in MCM2 (P49736) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
R19* (p.Arg19Ter) variant details
- p.Arg19Ter
- TOPMed rs1348376063
- gnomAD rs1348376063
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.381
- CADD 33.00
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available