E60D (p.Glu60Asp) variant of SLC26A2 (Sulfate transporter)
E60D (p.Glu60Asp) in SLC26A2 (Sulfate transporter) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
E60D (p.Glu60Asp) variant details
- p.Glu60Asp
- gnomAD 5-149977832-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.232
- REVEL 0.24
- ESM-1b 0.00
- AlphaMissense 0.15
- CADD 11.80
- PolyPhen-2 0.01
- SIFT 0.38
- Population evidence available
- Structural context available
- Literature evidence available