E16G (p.Glu16Gly) variant of ATL1 (Atlastin-1)
E16G (p.Glu16Gly) in ATL1 (Atlastin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
E16G (p.Glu16Gly) variant details
- p.Glu16Gly
- gnomAD 14-50587843-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- REVEL 0.24
- CADD 23.50
- PolyPhen-2 0.03
- SIFT 0.10
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available
- Literature evidence available