G31E (p.Gly31Glu) variant of DNAJC6 (Auxilin)
G31E (p.Gly31Glu) in DNAJC6 (Auxilin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
G31E (p.Gly31Glu) variant details
- p.Gly31Glu
- gnomAD 1-65309846-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.239
- REVEL 0.28
- CADD 16.30
- PolyPhen-2 0.02
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available