S17L (p.Ser17Leu) variant of DNAJC6 (Auxilin)
S17L (p.Ser17Leu) in DNAJC6 (Auxilin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
S17L (p.Ser17Leu) variant details
- p.Ser17Leu
- gnomAD 1-65309814-C-CTT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.673
- CADD 28.20
- Population evidence available
- Structural context available
- Literature evidence available