K72* (p.Lys72Ter) variant of SLC26A2 (Sulfate transporter)
K72* (p.Lys72Ter) 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 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
K72* (p.Lys72Ter) variant details
- p.Lys72Ter
- rs1479713112
- ClinGen CA361704394
- ClinVar RCV003026334
- ClinVar RCV004572579
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.494
- CADD 34.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: Achondrogenesis Type 1B. (PMID 20301689)
- Cited in: SLC26A2-Related Atelosteogenesis. (PMID 20301493)