A40S (p.Ala40Ser) variant of CUL3 (Cullin-3)
A40S (p.Ala40Ser) in CUL3 (Cullin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
A40S (p.Ala40Ser) variant details
- p.Ala40Ser
- ExAC rs780471397
- gnomAD rs780471397
- Missense
- Variant Prioritization Score for Impact Estimate 0.618
- REVEL 0.50
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.02
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available