S5I (p.Ser5Ile) variant of CUL3 (Cullin-3)
S5I (p.Ser5Ile) in CUL3 (Cullin-3) is a missense change. 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.
S5I (p.Ser5Ile) variant details
- p.Ser5Ile
- TOPMed rs1009417526
- gnomAD rs1009417526
- Missense
- Variant Prioritization Score for Impact Estimate 0.232
- REVEL 0.07
- CADD 22.00
- PolyPhen-2 0.09
- SIFT 0.06
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available