T44N (p.Thr44Asn) variant of DNAJC6 (Auxilin)
T44N (p.Thr44Asn) in DNAJC6 (Auxilin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
T44N (p.Thr44Asn) variant details
- p.Thr44Asn
- gnomAD 1-65254545-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- CADD 14.70
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available