K27* (p.Lys27Ter) variant of DNAJC6 (Auxilin)
K27* (p.Lys27Ter) in DNAJC6 (Auxilin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
K27* (p.Lys27Ter) variant details
- p.Lys27Ter
- gnomAD 1-65254598-A-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.373
- CADD 17.60
- Population evidence available
- Structural context available
- Literature evidence available