E27G (p.Glu27Gly) variant of PMS1 (PMS1 protein homolog 1)
E27G (p.Glu27Gly) in PMS1 (PMS1 protein homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, experimental measurements, and structural context.
E27G (p.Glu27Gly) variant details
- p.Glu27Gly
- gnomAD rs1472063251
- Missense
- Variant Prioritization Score for Impact Estimate 0.828
- REVEL 0.93
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- PMS1 High mobility group box domain domainome 1.0: score -0.0786