R46C (p.Arg46Cys) variant of CUL3 (Cullin-3)
R46C (p.Arg46Cys) in CUL3 (Cullin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
R46C (p.Arg46Cys) variant details
- p.Arg46Cys
- ExAC rs745998120
- gnomAD rs745998120
- Missense
- Variant Prioritization Score for Impact Estimate 0.47
- REVEL 0.29
- CADD 31.00
- PolyPhen-2 0.91
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available