E34D (p.Glu34Asp) variant of SLC26A2 (Sulfate transporter)
E34D (p.Glu34Asp) in SLC26A2 (Sulfate transporter) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
E34D (p.Glu34Asp) variant details
- p.Glu34Asp
- gnomAD rs1171774561
- Missense
- Variant Prioritization Score for Impact Estimate 0.216
- REVEL 0.24
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 12.50
- PolyPhen-2 0.01
- SIFT 0.10
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available