S17P (p.Ser17Pro) variant of DNAJC6 (Auxilin)
S17P (p.Ser17Pro) in DNAJC6 (Auxilin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
S17P (p.Ser17Pro) variant details
- p.Ser17Pro
- gnomAD 1-65254576-GT-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.471
- CADD 12.00
- Population evidence available
- Structural context available
- Literature evidence available