C80Y (p.Cys80Tyr) variant of SLC26A2 (Sulfate transporter)
C80Y (p.Cys80Tyr) in SLC26A2 (Sulfate transporter) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
C80Y (p.Cys80Tyr) variant details
- p.Cys80Tyr
- gnomAD 5-149977891-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.831
- REVEL 0.87
- ESM-1b 1.00
- AlphaMissense 0.24
- CADD 27.60
- PolyPhen-2 0.99
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available