A30R (p.Ala30Arg) variant of DNAJC6 (Auxilin)
A30R (p.Ala30Arg) in DNAJC6 (Auxilin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
A30R (p.Ala30Arg) variant details
- p.Ala30Arg
- rs1645080977
- gnomAD 1-65309870-A-AC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.211
- CADD 18.40
- Population evidence available
- Structural context available
- Literature evidence available