Q75R (p.Gln75Arg) variant of SLC26A2 (Sulfate transporter)
Q75R (p.Gln75Arg) 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 published literature and structural context.
Q75R (p.Gln75Arg) variant details
- p.Gln75Arg
- rs2480770468
- ClinVar RCV004573626
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- ESM-1b 0.00
- AlphaMissense 0.06
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Achondrogenesis Type 1B. (PMID 20301689)