E5* (p.Glu5Ter) variant of DNAJC6 (Auxilin)
E5* (p.Glu5Ter) in DNAJC6 (Auxilin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
E5* (p.Glu5Ter) variant details
- p.Glu5Ter
- gnomAD 1-65254547-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.597
- CADD 16.30
- Population evidence available
- Structural context available
- Literature evidence available