R55* (p.Arg55Ter) variant of PMS1 (PMS1 protein homolog 1)
R55* (p.Arg55Ter) in PMS1 (PMS1 protein homolog 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R55* (p.Arg55Ter) variant details
- p.Arg55Ter
- cosmic curated COSV59721
- ESP rs375147123
- ExAC rs375147123
- TOPMed rs375147123
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.585
- CADD 37.00
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- PMS1 High mobility group box domain domainome 1.0: score -0.157