F46L (p.Phe46Leu) variant of ATL1 (Atlastin-1)
F46L (p.Phe46Leu) 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.
F46L (p.Phe46Leu) variant details
- p.Phe46Leu
- gnomAD 14-50587934-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- REVEL 0.54
- CADD 25.70
- PolyPhen-2 0.88
- SIFT 0.03
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available