Q47* (p.Gln47Ter) variant of SLC26A2 (Sulfate transporter)
Q47* (p.Gln47Ter) in SLC26A2 (Sulfate transporter) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
Q47* (p.Gln47Ter) variant details
- p.Gln47Ter
- rs1755018723
- ClinGen CA361704122
- ClinVar RCV003472853
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.333
- CADD 26.90
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 7.2e-06)
- Structural context available
- Cited in: Achondrogenesis Type 1B. (PMID 20301689)