E47E (p.Glu47Glu) variant of ATL1 (Atlastin-1)
E47E (p.Glu47Glu) in ATL1 (Atlastin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
E47E (p.Glu47Glu) variant details
- p.Glu47Glu
- gnomAD 14-50587937-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.343
- CADD 9.77
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- Literature evidence available