E59Q (p.Glu59Gln) variant of PMS1 (PMS1 protein homolog 1)
E59Q (p.Glu59Gln) in PMS1 (PMS1 protein homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E59Q (p.Glu59Gln) variant details
- p.Glu59Gln
- gnomAD 2-189795811-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- REVEL 0.14
- CADD 17.90
- PolyPhen-2 0.06
- SIFT 0.35
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- PMS1 High mobility group box domain domainome 1.0: score -0.0942
- Literature evidence available