P22L (p.Pro22Leu) variant of CUL3 (Cullin-3)
P22L (p.Pro22Leu) in CUL3 (Cullin-3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of CUL3-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
P22L (p.Pro22Leu) variant details
- p.Pro22Leu
- rs867746441
- ClinGen CA66591319
- ClinVar RCV003402484
- Ensembl rs867746441
- Uncertain significance
- CUL3-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- REVEL 0.17
- CADD 24.30
- PolyPhen-2 0.06
- SIFT 0.02
- ClinVar: Uncertain significance (CUL3-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available