R32I (p.Arg32Ile) variant of DNAJC6 (Auxilin)
R32I (p.Arg32Ile) in DNAJC6 (Auxilin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
R32I (p.Arg32Ile) variant details
- p.Arg32Ile
- rs754115488
- gnomAD 1-65309864-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- REVEL 0.22
- CADD 21.90
- PolyPhen-2 0.04
- SIFT 0.15
- Population evidence available
- Structural context available
- Literature evidence available