E5K (p.Glu5Lys) variant of DNAJC6 (Auxilin)
E5K (p.Glu5Lys) in DNAJC6 (Auxilin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
E5K (p.Glu5Lys) variant details
- p.Glu5Lys
- gnomAD 1-65264923-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.765
- CADD 26.90
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available