G28R (p.Gly28Arg) variant of DNAJC6 (Auxilin)
G28R (p.Gly28Arg) in DNAJC6 (Auxilin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
G28R (p.Gly28Arg) variant details
- p.Gly28Arg
- gnomAD 1-65309821-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.19
- CADD 24.00
- PolyPhen-2 0.02
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available