E50K (p.Glu50Lys) variant of ATL1 (Atlastin-1)
E50K (p.Glu50Lys) in ATL1 (Atlastin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
E50K (p.Glu50Lys) variant details
- p.Glu50Lys
- gnomAD 14-50587944-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.519
- REVEL 0.41
- CADD 25.20
- PolyPhen-2 0.40
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available