R32C (p.Arg32Cys) variant of DNAJC6 (Auxilin)
R32C (p.Arg32Cys) in DNAJC6 (Auxilin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
R32C (p.Arg32Cys) variant details
- p.Arg32Cys
- rs1000690631
- gnomAD 1-65254625-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- CADD 16.40
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 2.5e-06)
- Structural context available
- Literature evidence available