G19* (p.Gly19Ter) variant of SLC26A2 (Sulfate transporter)
G19* (p.Gly19Ter) in SLC26A2 (Sulfate transporter) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
G19* (p.Gly19Ter) variant details
- p.Gly19Ter
- rs386833507
- ClinGen CA263272
- ClinVar RCV000049435
- ClinVar RCV000780714
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.729
- CADD 35.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Achondrogenesis Type 1B. (PMID 20301689)
- Cited in: SLC26A2-Related Atelosteogenesis. (PMID 20301493)