T44S (p.Thr44Ser) variant of DNAJC6 (Auxilin)
T44S (p.Thr44Ser) in DNAJC6 (Auxilin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
T44S (p.Thr44Ser) variant details
- p.Thr44Ser
- rs1317452323
- gnomAD 1-65254605-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- CADD 13.80
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available