T44A (p.Thr44Ala) variant of DNAJC6 (Auxilin)
T44A (p.Thr44Ala) in DNAJC6 (Auxilin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
T44A (p.Thr44Ala) variant details
- p.Thr44Ala
- gnomAD 1-65254544-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- CADD 13.90
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.3e-06)
- Structural context available
- Literature evidence available