E5G (p.Glu5Gly) variant of DNAJC6 (Auxilin)
E5G (p.Glu5Gly) in DNAJC6 (Auxilin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
E5G (p.Glu5Gly) variant details
- p.Glu5Gly
- gnomAD 1-65254548-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- CADD 17.40
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available