A30P (p.Ala30Pro) variant of DNAJC6 (Auxilin)
A30P (p.Ala30Pro) in DNAJC6 (Auxilin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
A30P (p.Ala30Pro) variant details
- p.Ala30Pro
- gnomAD 1-65254631-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- CADD 14.70
- SIFT 0.10
- Population evidence available
- Structural context available
- Literature evidence available