R32W (p.Arg32Trp) variant of DNAJC6 (Auxilin)
R32W (p.Arg32Trp) in DNAJC6 (Auxilin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
R32W (p.Arg32Trp) variant details
- p.Arg32Trp
- rs1480529913
- gnomAD 1-65254568-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.596
- CADD 16.40
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available