E47D (p.Glu47Asp) variant of ATL1 (Atlastin-1)
E47D (p.Glu47Asp) in ATL1 (Atlastin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
E47D (p.Glu47Asp) variant details
- p.Glu47Asp
- gnomAD rs2039118223
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- REVEL 0.30
- CADD 19.70
- PolyPhen-2 0.01
- SIFT 0.08
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available