R32Q (p.Arg32Gln) variant of DNAJC6 (Auxilin)
R32Q (p.Arg32Gln) in DNAJC6 (Auxilin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
R32Q (p.Arg32Gln) variant details
- p.Arg32Gln
- gnomAD 1-65254568-CGG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.587
- CADD 14.70
- Population evidence available
- Structural context available
- Literature evidence available