R3M (p.Arg3Met) variant of SLC6A19 (Q695T7)
R3M (p.Arg3Met) in SLC6A19 (Q695T7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
R3M (p.Arg3Met) variant details
- p.Arg3Met
- gnomAD 5-1201658-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- REVEL 0.35
- ESM-1b 0.00
- AlphaMissense 0.32
- CADD 24.00
- PolyPhen-2 0.79
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available