I44M (p.Ile44Met) variant of CUL3 (Cullin-3)
I44M (p.Ile44Met) in CUL3 (Cullin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
I44M (p.Ile44Met) variant details
- p.Ile44Met
- gnomAD rs1212518379
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- REVEL 0.44
- CADD 23.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available