P85R (p.Pro85Arg) variant of CRBN (Protein cereblon)
P85R (p.Pro85Arg) in CRBN (Protein cereblon) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
P85R (p.Pro85Arg) variant details
- p.Pro85Arg
- TOPMed rs1707737105
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.531
- REVEL 0.36
- CADD 24.40
- PolyPhen-2 0.98
- SIFT 0.38
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available