C29R (p.Cys29Arg) variant of PGR (Progesterone receptor)
C29R (p.Cys29Arg) 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 0.16 / 1. The record also includes population frequency data and structural context.
C29R (p.Cys29Arg) variant details
- p.Cys29Arg
- rs1863007121
- ClinGen CA382482160
- ClinVar RCV004356377
- TOPMed rs1863007121
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.161
- REVEL 0.02
- CADD 16.20
- PolyPhen-2 0.00
- 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 2.4e-05)
- Structural context available