S54Y (p.Ser54Tyr) variant of PGR (Progesterone receptor)
S54Y (p.Ser54Tyr) in PGR (Progesterone receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
S54Y (p.Ser54Tyr) variant details
- p.Ser54Tyr
- ESP rs369863850
- ExAC rs369863850
- TOPMed rs369863850
- gnomAD rs369863850
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- REVEL 0.28
- CADD 25.40
- PolyPhen-2 0.89
- SIFT 0.00
- Most common in the Ashkenazi Jewish population (allele frequency 0.0026)
- Structural context available