D26N (p.Asp26Asn) variant of CUL3 (Cullin-3)
D26N (p.Asp26Asn) in CUL3 (Cullin-3) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
D26N (p.Asp26Asn) variant details
- p.Asp26Asn
- Ensembl rs2106305184
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.555
- REVEL 0.38
- CADD 27.30
- PolyPhen-2 0.97
- SIFT 0.04
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available