E59* (p.Glu59Ter) variant of PMS1 (PMS1 protein homolog 1)
E59* (p.Glu59Ter) in PMS1 (PMS1 protein homolog 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E59* (p.Glu59Ter) variant details
- p.Glu59Ter
- gnomAD 2-189795811-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.615
- CADD 36.00
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- PMS1 High mobility group box domain domainome 1.0: score -0.0942
- Literature evidence available