L22V (p.Leu22Val) variant of DNAJC6 (Auxilin)
L22V (p.Leu22Val) in DNAJC6 (Auxilin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
L22V (p.Leu22Val) variant details
- p.Leu22Val
- gnomAD 1-65254583-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.58
- CADD 9.76
- SIFT 0.29
- Population evidence available
- Structural context available
- Literature evidence available