P22R (p.Pro22Arg) variant of CUL3 (Cullin-3)
P22R (p.Pro22Arg) in CUL3 (Cullin-3) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
P22R (p.Pro22Arg) variant details
- p.Pro22Arg
- Ensembl rs867746441
- NCI-TCGA TCGA novel
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.20
- CADD 24.30
- PolyPhen-2 0.83
- SIFT 0.09
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available