R10Q (p.Arg10Gln) variant of PGR (Progesterone receptor)
R10Q (p.Arg10Gln) 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 0.14 / 1. The record also includes population frequency data and structural context.
R10Q (p.Arg10Gln) variant details
- p.Arg10Gln
- rs1025431009
- ClinGen CA382482260
- ClinVar RCV004087894
- TOPMed rs1025431009
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.137
- REVEL 0.04
- CADD 15.90
- PolyPhen-2 0.02
- SIFT 0.12
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00042)
- Structural context available