E24A (p.Glu24Ala) variant of ATL1 (Atlastin-1)
E24A (p.Glu24Ala) in ATL1 (Atlastin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
E24A (p.Glu24Ala) variant details
- p.Glu24Ala
- gnomAD 14-50587867-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- REVEL 0.31
- CADD 27.30
- PolyPhen-2 0.90
- SIFT 0.01
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- Literature evidence available