E59A (p.Glu59Ala) variant of PMS1 (PMS1 protein homolog 1)
E59A (p.Glu59Ala) in PMS1 (PMS1 protein homolog 1) is a missense 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.
E59A (p.Glu59Ala) variant details
- p.Glu59Ala
- gnomAD 2-189795812-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.234
- REVEL 0.10
- CADD 19.40
- PolyPhen-2 0.01
- SIFT 0.19
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available
- PMS1 High mobility group box domain domainome 1.0: score -0.0942
- Literature evidence available