Q47K (p.Gln47Lys) variant of SLC26A2 (Sulfate transporter)
Q47K (p.Gln47Lys) in SLC26A2 (Sulfate transporter) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes structural context.
Q47K (p.Gln47Lys) variant details
- p.Gln47Lys
- TOPMed rs1755018723
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- ESM-1b 0.00
- AlphaMissense 0.07
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available