V35I (p.Val35Ile) variant of ATL1 (Atlastin-1)
V35I (p.Val35Ile) in ATL1 (Atlastin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
V35I (p.Val35Ile) variant details
- p.Val35Ile
- gnomAD 14-50587899-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.11
- CADD 21.10
- PolyPhen-2 0.01
- SIFT 0.27
- Population evidence available
- Structural context available
- Literature evidence available