L18I (p.Leu18Ile) variant of SLC47A1 (Q96FL8)
L18I (p.Leu18Ile) in SLC47A1 (Q96FL8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.03 / 1. The record also includes population frequency data, published literature, and structural context.
L18I (p.Leu18Ile) variant details
- p.Leu18Ile
- gnomAD 17-19533991-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0317
- REVEL 0.01
- CADD 0.89
- PolyPhen-2 0.15
- SIFT 0.24
- Population evidence available
- Structural context available
- Literature evidence available