R30* (p.Arg30Ter) variant of MCM2 (P49736)
R30* (p.Arg30Ter) in MCM2 (P49736) is a protein-truncating change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
R30* (p.Arg30Ter) variant details
- p.Arg30Ter
- rs1181496683
- NCI-TCGA Cosmic COSV9941
- TOPMed rs1181496683
- gnomAD rs1181496683
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.566
- CADD 36.00
- UniProt: Variant assessed as somatic; high impact.
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available