E59E (p.Glu59Glu) variant of PMS1 (PMS1 protein homolog 1)
E59E (p.Glu59Glu) in PMS1 (PMS1 protein homolog 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E59E (p.Glu59Glu) variant details
- p.Glu59Glu
- rs1324848795
- gnomAD 2-189795813-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.173
- CADD 4.32
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- PMS1 High mobility group box domain domainome 1.0: score -0.0942
- Literature evidence available