G8E (p.Gly8Glu) variant of DNAJC6 (Auxilin)
G8E (p.Gly8Glu) in DNAJC6 (Auxilin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
G8E (p.Gly8Glu) variant details
- p.Gly8Glu
- gnomAD 1-65254554-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- CADD 15.10
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.3e-06)
- Structural context available
- Literature evidence available