D24N (p.Asp24Asn) variant of DNAJC6 (Auxilin)
D24N (p.Asp24Asn) in DNAJC6 (Auxilin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
D24N (p.Asp24Asn) variant details
- p.Asp24Asn
- gnomAD 1-65309812-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.544
- REVEL 0.44
- CADD 29.30
- PolyPhen-2 0.70
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available