D3D (p.Asp3Asp) variant of DNAJC6 (Auxilin)
D3D (p.Asp3Asp) in DNAJC6 (Auxilin) is a synonymous 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.
D3D (p.Asp3Asp) variant details
- p.Asp3Asp
- rs950568157
- gnomAD 1-65264919-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.313
- CADD 14.10
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available