H13Q (p.His13Gln) variant of PGR (Progesterone receptor)
H13Q (p.His13Gln) in PGR (Progesterone receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
H13Q (p.His13Gln) variant details
- p.His13Gln
- TOPMed rs1391730145
- gnomAD rs1391730145
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.21
- CADD 23.90
- PolyPhen-2 0.95
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available