L22S (p.Leu22Ser) variant of DNAJC6 (Auxilin)
L22S (p.Leu22Ser) in DNAJC6 (Auxilin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
L22S (p.Leu22Ser) variant details
- p.Leu22Ser
- rs921544252
- gnomAD 1-65254584-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- CADD 8.35
- SIFT 0.13
- Population evidence available
- Structural context available
- Literature evidence available