S35R (p.Ser35Arg) variant of DNAJC6 (Auxilin)
S35R (p.Ser35Arg) in DNAJC6 (Auxilin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
S35R (p.Ser35Arg) variant details
- p.Ser35Arg
- rs755667643
- gnomAD 1-65309841-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- REVEL 0.25
- CADD 22.20
- PolyPhen-2 0.16
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available