T18I (p.Thr18Ile) variant of ATL1 (Atlastin-1)
T18I (p.Thr18Ile) in ATL1 (Atlastin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
T18I (p.Thr18Ile) variant details
- p.Thr18Ile
- gnomAD 14-50587849-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.22
- REVEL 0.03
- CADD 17.60
- PolyPhen-2 0.00
- SIFT 0.26
- Population evidence available
- Structural context available
- Literature evidence available