E53E (p.Glu53Glu) variant of PMS1 (PMS1 protein homolog 1)
E53E (p.Glu53Glu) in PMS1 (PMS1 protein homolog 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E53E (p.Glu53Glu) variant details
- p.Glu53Glu
- rs2106232968
- gnomAD 2-189795795-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.227
- CADD 8.39
- Population evidence available
- Structural context available
- PMS1 High mobility group box domain domainome 1.0: score -0.22
- Literature evidence available