K27R (p.Lys27Arg) variant of DNAJC6 (Auxilin)
K27R (p.Lys27Arg) in DNAJC6 (Auxilin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
K27R (p.Lys27Arg) variant details
- p.Lys27Arg
- gnomAD 1-65254597-GA-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.591
- CADD 15.70
- Population evidence available
- Structural context available
- Literature evidence available