K7R (p.Lys7Arg) variant of DNAJC6 (Auxilin)
K7R (p.Lys7Arg) in DNAJC6 (Auxilin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
K7R (p.Lys7Arg) variant details
- p.Lys7Arg
- gnomAD 1-65254549-GA-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.45
- CADD 9.59
- Population evidence available
- Structural context available
- Literature evidence available