L33* (p.Leu33Ter) variant of DNAJC6 (Auxilin)
L33* (p.Leu33Ter) in DNAJC6 (Auxilin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
L33* (p.Leu33Ter) variant details
- p.Leu33Ter
- gnomAD 1-65309828-T-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.575
- CADD 35.00
- Population evidence available
- Structural context available
- Literature evidence available