Q42E (p.Gln42Glu) variant of CUL3 (Cullin-3)
Q42E (p.Gln42Glu) in CUL3 (Cullin-3) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
Q42E (p.Gln42Glu) variant details
- p.Gln42Glu
- NCI-TCGA Cosmic COSV1000
- cosmic curated COSV10002
- NCI-TCGA Cosmic COSV5236
- Ensembl rs2106304909
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.53
- REVEL 0.36
- CADD 23.80
- PolyPhen-2 0.80
- SIFT 0.13
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available