p.Lys22 Trp28del variant of DNAJC6 (Auxilin)
p.Lys22 Trp28del in DNAJC6 (Auxilin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
p.Lys22 Trp28del variant details
- rs1180480142
- gnomAD 1-65254593-CGTGGA
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.311
- CADD 18.10
- Most common in the South Asian population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available