G48* (p.Gly48Ter) variant of PMS1 (PMS1 protein homolog 1)
G48* (p.Gly48Ter) in PMS1 (PMS1 protein homolog 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G48* (p.Gly48Ter) variant details
- p.Gly48Ter
- gnomAD 2-189795778-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.873
- CADD 40.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- PMS1 High mobility group box domain domainome 1.0: score -0.0783
- Literature evidence available