A30Q (p.Ala30Gln) variant of DNAJC6 (Auxilin)
A30Q (p.Ala30Gln) in DNAJC6 (Auxilin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
A30Q (p.Ala30Gln) variant details
- p.Ala30Gln
- rs1443589400
- gnomAD 1-65309872-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.465
- CADD 23.80
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available