L88W (p.Leu88Trp) variant of ATL1 (Atlastin-1)
L88W (p.Leu88Trp) in ATL1 (Atlastin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
L88W (p.Leu88Trp) variant details
- p.Leu88Trp
- gnomAD 14-50588059-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.741
- REVEL 0.83
- CADD 28.90
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available