L46M (p.Leu46Met) variant of SLC19A3 (Thiamine transporter 2)
L46M (p.Leu46Met) in SLC19A3 (Thiamine transporter 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
L46M (p.Leu46Met) variant details
- p.Leu46Met
- ExAC rs772514747
- gnomAD rs772514747
- Missense
- Variant Prioritization Score for Impact Estimate 0.484
- REVEL 0.60
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 23.10
- PolyPhen-2 0.99
- SIFT 0.02
- Population evidence available
- Structural context available