Q47H (p.Gln47His) variant of SLC26A2 (Sulfate transporter)
Q47H (p.Gln47His) in SLC26A2 (Sulfate transporter) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes structural context.
Q47H (p.Gln47His) variant details
- p.Gln47His
- TOPMed rs1194896006
- gnomAD rs1194896006
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- ESM-1b 0.00
- AlphaMissense 0.09
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available