P37L (p.Pro37Leu) variant of PGR (Progesterone receptor)
P37L (p.Pro37Leu) 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 0.04 / 1. The record also includes population frequency data and structural context.
P37L (p.Pro37Leu) variant details
- p.Pro37Leu
- ESP rs146230124
- ExAC rs146230124
- TOPMed rs146230124
- gnomAD rs146230124
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.0445
- REVEL 0.00
- CADD 6.62
- PolyPhen-2 0.01
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00055)
- Structural context available