R10L (p.Arg10Leu) variant of PGR (Progesterone receptor)
R10L (p.Arg10Leu) in PGR (Progesterone receptor) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
R10L (p.Arg10Leu) variant details
- p.Arg10Leu
- TOPMed rs1025431009
- gnomAD rs1025431009
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.243
- REVEL 0.17
- CADD 22.60
- PolyPhen-2 0.48
- SIFT 0.03
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00035)
- Structural context available