G12R (p.Gly12Arg) variant of ATL1 (Atlastin-1)
G12R (p.Gly12Arg) in ATL1 (Atlastin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
G12R (p.Gly12Arg) variant details
- p.Gly12Arg
- ExAC rs750638321
- gnomAD rs750638321
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- REVEL 0.25
- CADD 29.60
- PolyPhen-2 0.33
- SIFT 0.01
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available