G31D (p.Gly31Asp) variant of DNAJC6 (Auxilin)
G31D (p.Gly31Asp) in DNAJC6 (Auxilin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
G31D (p.Gly31Asp) variant details
- p.Gly31Asp
- gnomAD 1-65309855-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- REVEL 0.23
- CADD 17.80
- PolyPhen-2 0.02
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available