N6K (p.Asn6Lys) variant of DNAJC6 (Auxilin)
N6K (p.Asn6Lys) in DNAJC6 (Auxilin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
N6K (p.Asn6Lys) variant details
- p.Asn6Lys
- gnomAD 1-65264923-G-GA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.804
- CADD 32.00
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Literature evidence available