R124* (p.Arg124Ter) variant of MCM6 (Q14566)
R124* (p.Arg124Ter) in MCM6 (Q14566) 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 0.74 / 1. The record also includes population frequency data and structural context.
R124* (p.Arg124Ter) variant details
- p.Arg124Ter
- rs1348642360
- NCI-TCGA Cosmic COSV5146
- gnomAD rs1348642360
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.743
- CADD 37.00
- UniProt: Variant assessed as somatic; high impact.
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available