Q36E (p.Gln36Glu) variant of ATL1 (Atlastin-1)
Q36E (p.Gln36Glu) in ATL1 (Atlastin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
Q36E (p.Gln36Glu) variant details
- p.Gln36Glu
- gnomAD 14-50587902-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.535
- REVEL 0.38
- CADD 22.90
- PolyPhen-2 0.34
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available