E57G (p.Glu57Gly) variant of SLC26A2 (Sulfate transporter)
E57G (p.Glu57Gly) in SLC26A2 (Sulfate transporter) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
E57G (p.Glu57Gly) variant details
- p.Glu57Gly
- gnomAD 5-149977822-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.485
- REVEL 0.55
- ESM-1b 0.00
- AlphaMissense 0.14
- CADD 24.40
- PolyPhen-2 0.95
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available