R58C (p.Arg58Cys) variant of SLC26A2 (Sulfate transporter)
R58C (p.Arg58Cys) in SLC26A2 (Sulfate transporter) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of SLC26A2-related skeletal dysplasia; Inborn genetic diseases; Multiple epiphyseal. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
R58C (p.Arg58Cys) variant details
- p.Arg58Cys
- rs369318758
- ClinGen CA216019
- ClinVar RCV000054570
- ClinVar RCV001069051
- Conflicting interpretations
- SLC26A2-related skeletal dysplasia; Inborn genetic diseases; Multiple epiphyseal
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- REVEL 0.26
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 14.80
- PolyPhen-2 0.59
- SIFT 0.06
- ClinVar: Conflicting classifications of pathogenicity (SLC26A2-related skeletal dysplasia; Inborn genetic diseases; Mul)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 0.00026)
- Structural context available
- Cited in: Achondrogenesis Type 1B. (PMID 20301689)
- Cited in: SLC26A2-Related Atelosteogenesis. (PMID 20301493)