L111P (p.Leu111Pro) variant of PGR (Progesterone receptor)
L111P (p.Leu111Pro) in PGR (Progesterone receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. 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.
L111P (p.Leu111Pro) variant details
- p.Leu111Pro
- rs773988513
- ClinGen CA6243923
- ClinVar RCV004124385
- ExAC rs773988513
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- REVEL 0.27
- CADD 27.20
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available