A75T (p.Ala75Thr) variant of ATL1 (Atlastin-1)
A75T (p.Ala75Thr) in ATL1 (Atlastin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
A75T (p.Ala75Thr) variant details
- p.Ala75Thr
- 1000Genomes rs182963739
- ExAC rs182963739
- gnomAD rs182963739
- Missense
- Variant Prioritization Score for Impact Estimate 0.605
- REVEL 0.48
- CADD 25.00
- PolyPhen-2 0.85
- SIFT 0.09
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available