G79R (p.Gly79Arg) variant of ATL1 (Atlastin-1)
G79R (p.Gly79Arg) in ATL1 (Atlastin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
G79R (p.Gly79Arg) variant details
- p.Gly79Arg
- gnomAD 14-50588031-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.896
- REVEL 0.96
- CADD 29.10
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available