R32H (p.Arg32His) variant of DNAJC6 (Auxilin)
R32H (p.Arg32His) in DNAJC6 (Auxilin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
R32H (p.Arg32His) variant details
- p.Arg32His
- gnomAD 1-65254626-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- CADD 16.20
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available