D26H (p.Asp26His) variant of CUL3 (Cullin-3)
D26H (p.Asp26His) 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 0.64 / 1. The record also includes population frequency data and structural context.
D26H (p.Asp26His) variant details
- p.Asp26His
- Ensembl rs2106305184
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.643
- REVEL 0.53
- CADD 27.30
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available