D3E (p.Asp3Glu) variant of DNAJC6 (Auxilin)
D3E (p.Asp3Glu) in DNAJC6 (Auxilin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
D3E (p.Asp3Glu) variant details
- p.Asp3Glu
- gnomAD 1-65264919-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- CADD 20.40
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available