D24Y (p.Asp24Tyr) variant of DNAJC6 (Auxilin)
D24Y (p.Asp24Tyr) in DNAJC6 (Auxilin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
D24Y (p.Asp24Tyr) variant details
- p.Asp24Tyr
- rs1359963867
- gnomAD 1-65309812-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.646
- REVEL 0.61
- CADD 29.70
- PolyPhen-2 0.87
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available