L33V (p.Leu33Val) variant of DNAJC6 (Auxilin)
L33V (p.Leu33Val) in DNAJC6 (Auxilin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
L33V (p.Leu33Val) variant details
- p.Leu33Val
- gnomAD 1-65309827-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.226
- REVEL 0.26
- CADD 15.10
- PolyPhen-2 0.00
- SIFT 0.33
- Population evidence available
- Structural context available
- Literature evidence available