R19Q (p.Arg19Gln) variant of CUL3 (Cullin-3)
R19Q (p.Arg19Gln) 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 0.25 / 1. The record also includes population frequency data and structural context.
R19Q (p.Arg19Gln) variant details
- p.Arg19Gln
- Ensembl rs2106331290
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.12
- CADD 23.20
- PolyPhen-2 0.18
- SIFT 0.06
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available