F46S (p.Phe46Ser) variant of ATL1 (Atlastin-1)
F46S (p.Phe46Ser) in ATL1 (Atlastin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
F46S (p.Phe46Ser) variant details
- p.Phe46Ser
- ExAC rs778130435
- TOPMed rs778130435
- gnomAD rs778130435
- Missense
- Variant Prioritization Score for Impact Estimate 0.775
- REVEL 0.85
- CADD 29.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available