E66E (p.Glu66Glu) variant of ATL1 (Atlastin-1)
E66E (p.Glu66Glu) in ATL1 (Atlastin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
E66E (p.Glu66Glu) variant details
- p.Glu66Glu
- rs1260793822
- gnomAD 14-50587994-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.399
- CADD 6.79
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- Literature evidence available