V30L (p.Val30Leu) variant of CUL3 (Cullin-3)
V30L (p.Val30Leu) 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 0.57 / 1. The record also includes population frequency data and structural context.
V30L (p.Val30Leu) variant details
- p.Val30Leu
- NCI-TCGA Cosmic COSV5236
- cosmic curated COSV52369
- Ensembl rs1694761642
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.568
- REVEL 0.43
- CADD 23.20
- PolyPhen-2 0.50
- SIFT 0.22
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available