W35C (p.Trp35Cys) variant of SLC6A19 (Q695T7)
W35C (p.Trp35Cys) in SLC6A19 (Q695T7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
W35C (p.Trp35Cys) variant details
- p.Trp35Cys
- gnomAD 5-1201755-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.873
- REVEL 0.91
- ESM-1b 1.00
- AlphaMissense 1.00
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available