A30G (p.Ala30Gly) variant of DNAJC6 (Auxilin)
A30G (p.Ala30Gly) in DNAJC6 (Auxilin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
A30G (p.Ala30Gly) variant details
- p.Ala30Gly
- gnomAD 1-65254640-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.403
- CADD 16.30
- Population evidence available
- Structural context available
- Literature evidence available