P12L (p.Pro12Leu) variant of PGR (Progesterone receptor)
P12L (p.Pro12Leu) in PGR (Progesterone receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
P12L (p.Pro12Leu) variant details
- p.Pro12Leu
- TOPMed rs973621938
- gnomAD rs973621938
- Missense
- Variant Prioritization Score for Impact Estimate 0.257
- REVEL 0.04
- CADD 23.20
- PolyPhen-2 0.03
- SIFT 0.04
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available