R58H (p.Arg58His) variant of SLC26A2 (Sulfate transporter)
R58H (p.Arg58His) in SLC26A2 (Sulfate transporter) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Achondrogenesis, type IB; Atelosteogenesis type II; Diastrophic dysplasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
R58H (p.Arg58His) variant details
- p.Arg58His
- rs199893058
- ClinGen CA3505216
- ClinVar RCV001459546
- ClinVar RCV003136080
- Conflicting interpretations
- Achondrogenesis, type IB; Atelosteogenesis type II; Diastrophic dysplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- REVEL 0.24
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 16.20
- PolyPhen-2 0.68
- SIFT 0.17
- ClinVar: Conflicting classifications of pathogenicity (Achondrogenesis, type IB; Atelosteogenesis type II; Diastrophic)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- Cited in: Achondrogenesis Type 1B. (PMID 20301689)
- Cited in: SLC26A2-Related Atelosteogenesis. (PMID 20301493)