R32T (p.Arg32Thr) variant of DNAJC6 (Auxilin)
R32T (p.Arg32Thr) 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.
R32T (p.Arg32Thr) variant details
- p.Arg32Thr
- gnomAD 1-65309864-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- REVEL 0.24
- CADD 18.70
- PolyPhen-2 0.05
- SIFT 0.45
- Population evidence available
- Structural context available
- Literature evidence available