R10* (p.Arg10Ter) variant of PMS1 (PMS1 protein homolog 1)
R10* (p.Arg10Ter) in PMS1 (PMS1 protein homolog 1) 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 0.63 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R10* (p.Arg10Ter) variant details
- p.Arg10Ter
- rs1367090018
- cosmic curated COSV59721
- TOPMed rs1367090018
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.629
- CADD 36.00
- UniProt: Variant assessed as somatic; high impact.
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available
- PMS1 High mobility group box domain domainome 1.0: score 0.694