R671H (p.Arg671His) variant of SLC26A2 (Sulfate transporter)
R671H (p.Arg671His) in SLC26A2 (Sulfate transporter) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Diastrophic dysplasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
R671H (p.Arg671His) variant details
- p.Arg671His
- rs1038419867
- ClinGen CA129084797
- ClinVar RCV001596920
- ClinVar RCV001866251
- Likely pathogenic
- Diastrophic dysplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.23
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 19.00
- PolyPhen-2 0.04
- SIFT 0.56
- ClinVar: Likely pathogenic (Diastrophic dysplasia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available
- Cited in: Achondrogenesis Type 1B. (PMID 20301689)
- Cited in: SLC26A2-Related Atelosteogenesis. (PMID 20301493)