K7Q (p.Lys7Gln) variant of DNAJC6 (Auxilin)
K7Q (p.Lys7Gln) in DNAJC6 (Auxilin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
K7Q (p.Lys7Gln) variant details
- p.Lys7Gln
- rs1184190071
- gnomAD 1-65254571-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.239
- CADD 16.50
- SIFT 0.03
- Most common in the REMAINING population (allele frequency 3.5e-05)
- Structural context available
- Literature evidence available