E47Q (p.Glu47Gln) variant of PGR (Progesterone receptor)
E47Q (p.Glu47Gln) in PGR (Progesterone receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and structural context.
E47Q (p.Glu47Gln) variant details
- p.Glu47Gln
- ESP rs148270826
- ExAC rs148270826
- TOPMed rs148270826
- gnomAD rs148270826
- Missense
- Variant Prioritization Score for Impact Estimate 0.0652
- REVEL 0.02
- CADD 8.28
- PolyPhen-2 0.05
- SIFT 0.22
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available