S54F (p.Ser54Phe) variant of PGR (Progesterone receptor)
S54F (p.Ser54Phe) in PGR (Progesterone receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
S54F (p.Ser54Phe) variant details
- p.Ser54Phe
- cosmic curated COSV54809
- ESP rs369863850
- ExAC rs369863850
- TOPMed rs369863850
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- REVEL 0.30
- CADD 26.10
- PolyPhen-2 0.85
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available