R11Q (p.Arg11Gln) variant of CUL3 (Cullin-3)
R11Q (p.Arg11Gln) in CUL3 (Cullin-3) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
R11Q (p.Arg11Gln) variant details
- p.Arg11Gln
- Ensembl rs2106331327
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.229
- REVEL 0.05
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.35
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available