V35F (p.Val35Phe) variant of ATL1 (Atlastin-1)
V35F (p.Val35Phe) in ATL1 (Atlastin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
V35F (p.Val35Phe) variant details
- p.Val35Phe
- gnomAD 14-50587899-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.466
- REVEL 0.31
- CADD 25.60
- PolyPhen-2 0.82
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available