V26F (p.Val26Phe) variant of DNAJC6 (Auxilin)
V26F (p.Val26Phe) in DNAJC6 (Auxilin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
V26F (p.Val26Phe) variant details
- p.Val26Phe
- gnomAD 1-65309848-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- REVEL 0.21
- CADD 15.80
- PolyPhen-2 0.00
- SIFT 0.69
- Most common in the Middle Eastern population (allele frequency 0.00018)
- Structural context available
- Literature evidence available