G8* (p.Gly8Ter) variant of DNAJC6 (Auxilin)
G8* (p.Gly8Ter) in DNAJC6 (Auxilin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
G8* (p.Gly8Ter) variant details
- p.Gly8Ter
- gnomAD 1-65254553-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.719
- CADD 14.00
- Population evidence available
- Structural context available
- Literature evidence available