E20E (p.Glu20Glu) variant of ATL1 (Atlastin-1)
E20E (p.Glu20Glu) in ATL1 (Atlastin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
E20E (p.Glu20Glu) variant details
- p.Glu20Glu
- rs2039117245
- gnomAD 14-50587856-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.18
- CADD 9.74
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- Literature evidence available