A30D (p.Ala30Asp) variant of DNAJC6 (Auxilin)
A30D (p.Ala30Asp) in DNAJC6 (Auxilin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
A30D (p.Ala30Asp) variant details
- p.Ala30Asp
- rs1309466558
- gnomAD 1-65254632-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- CADD 15.90
- SIFT 0.04
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available
- Literature evidence available