E27D (p.Glu27Asp) variant of ATL1 (Atlastin-1)
E27D (p.Glu27Asp) in ATL1 (Atlastin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
E27D (p.Glu27Asp) variant details
- p.Glu27Asp
- gnomAD 14-50587877-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.163
- REVEL 0.14
- CADD 15.40
- PolyPhen-2 0.00
- SIFT 0.34
- Population evidence available
- Structural context available
- Literature evidence available