S35* (p.Ser35Ter) variant of SLC26A2 (Sulfate transporter)
S35* (p.Ser35Ter) 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.
S35* (p.Ser35Ter) variant details
- p.Ser35Ter
- rs1755017552
- ClinGen CA361703990
- ClinVar RCV002872377
- gnomAD rs1755017552
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.728
- CADD 33.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: Achondrogenesis Type 1B. (PMID 20301689)
- Cited in: SLC26A2-Related Atelosteogenesis. (PMID 20301493)