V37I (p.Val37Ile) variant of ATL1 (Atlastin-1)
V37I (p.Val37Ile) in ATL1 (Atlastin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
V37I (p.Val37Ile) variant details
- p.Val37Ile
- gnomAD 14-50587905-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- REVEL 0.10
- CADD 17.90
- PolyPhen-2 0.01
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available