V26A (p.Val26Ala) variant of DNAJC6 (Auxilin)
V26A (p.Val26Ala) in DNAJC6 (Auxilin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
V26A (p.Val26Ala) variant details
- p.Val26Ala
- gnomAD 1-65309810-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.547
- REVEL 0.47
- CADD 29.00
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available