V35L (p.Val35Leu) variant of ATL1 (Atlastin-1)
V35L (p.Val35Leu) in ATL1 (Atlastin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
V35L (p.Val35Leu) variant details
- p.Val35Leu
- gnomAD 14-50587899-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.19
- CADD 22.00
- PolyPhen-2 0.01
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available