E50D (p.Glu50Asp) variant of ATL1 (Atlastin-1)
E50D (p.Glu50Asp) in ATL1 (Atlastin-1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
E50D (p.Glu50Asp) variant details
- p.Glu50Asp
- rs755879849
- gnomAD 14-50587944-GAAAC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.697
- CADD 29.20
- Population evidence available
- Structural context available
- Literature evidence available