R17Q (p.Arg17Gln) variant of CUL3 (Cullin-3)
R17Q (p.Arg17Gln) in CUL3 (Cullin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
R17Q (p.Arg17Gln) variant details
- p.Arg17Gln
- Ensembl rs2106331302
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.23
- CADD 25.00
- PolyPhen-2 0.89
- SIFT 0.12
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available