E25E (p.Glu25Glu) variant of ATL1 (Atlastin-1)
E25E (p.Glu25Glu) in ATL1 (Atlastin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
E25E (p.Glu25Glu) variant details
- p.Glu25Glu
- rs766461592
- gnomAD 14-50587871-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.528
- CADD 8.90
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- Literature evidence available