A30E (p.Ala30Glu) variant of DNAJC6 (Auxilin)
A30E (p.Ala30Glu) in DNAJC6 (Auxilin) is a missense 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.
A30E (p.Ala30Glu) variant details
- p.Ala30Glu
- gnomAD 1-65254602-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.459
- CADD 16.20
- SIFT 0.66
- Population evidence available
- Structural context available
- Literature evidence available