C45F (p.Cys45Phe) variant of SLC6A19 (Q695T7)
C45F (p.Cys45Phe) in SLC6A19 (Q695T7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
C45F (p.Cys45Phe) variant details
- p.Cys45Phe
- gnomAD 5-1201784-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.766
- REVEL 0.76
- ESM-1b 1.00
- AlphaMissense 0.56
- CADD 26.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available