D26Y (p.Asp26Tyr) variant of CUL3 (Cullin-3)
D26Y (p.Asp26Tyr) in CUL3 (Cullin-3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
D26Y (p.Asp26Tyr) variant details
- p.Asp26Tyr
- rs2106305184
- ClinGen CA351131033
- NCI-TCGA Cosmic COSV5236
- cosmic curated COSV52368
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.664
- REVEL 0.56
- CADD 27.90
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available