R32L (p.Arg32Leu) variant of DNAJC6 (Auxilin)
R32L (p.Arg32Leu) in DNAJC6 (Auxilin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
R32L (p.Arg32Leu) variant details
- p.Arg32Leu
- gnomAD 1-65254569-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.212
- CADD 13.10
- SIFT 0.11
- Population evidence available
- Structural context available
- Literature evidence available