K7S (p.Lys7Ser) variant of DNAJC6 (Auxilin)
K7S (p.Lys7Ser) in DNAJC6 (Auxilin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
K7S (p.Lys7Ser) variant details
- p.Lys7Ser
- gnomAD 1-65254570-GA-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.351
- CADD 14.40
- Population evidence available
- Structural context available
- Literature evidence available