W35R (p.Trp35Arg) variant of SLC6A19 (Q695T7)
W35R (p.Trp35Arg) in SLC6A19 (Q695T7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
W35R (p.Trp35Arg) variant details
- p.Trp35Arg
- gnomAD 5-1201753-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.836
- REVEL 0.94
- ESM-1b 1.00
- AlphaMissense 0.99
- CADD 29.40
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available