C653S (p.Cys653Ser) variant of SLC26A2 (Sulfate transporter)
C653S (p.Cys653Ser) in SLC26A2 (Sulfate transporter) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of SLC26A2-related disorder; Connective tissue disorder; Atelosteogenesis type II. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
C653S (p.Cys653Ser) variant details
- p.Cys653Ser
- rs104893924
- ClinGen CA252996
- ClinVar RCV000004313
- ClinVar RCV000055760
- Likely pathogenic
- SLC26A2-related disorder; Connective tissue disorder; Atelosteogenesis type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.794
- REVEL 0.86
- ESM-1b 1.00
- AlphaMissense 0.74
- CADD 26.80
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely pathogenic (Diastrophic dysplasia)
- EBI: Pathogenic (in EDM4)
- UniProt: Pathogenic (in EDM4)
- Most common in the Non-Finnish European population (allele frequency 0.00025)
- Structural context available
- Cited in: Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene: correlation between sulfate transport activity… (PMID 11448940)
- Cited in: Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella… (PMID 12966518)