G33A (p.Gly33Ala) variant of ATL1 (Atlastin-1)
G33A (p.Gly33Ala) in ATL1 (Atlastin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
G33A (p.Gly33Ala) variant details
- p.Gly33Ala
- ExAC rs753197391
- gnomAD rs753197391
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- REVEL 0.12
- CADD 20.80
- PolyPhen-2 0.00
- SIFT 0.44
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available