L6M (p.Leu6Met) variant of SLC6A19 (Q695T7)
L6M (p.Leu6Met) in SLC6A19 (Q695T7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
L6M (p.Leu6Met) variant details
- p.Leu6Met
- gnomAD 5-1201666-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.25
- ESM-1b 0.00
- AlphaMissense 0.18
- CADD 20.90
- PolyPhen-2 0.94
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available