G166R (p.Gly166Arg) variant of SLC26A2 (Sulfate transporter)
G166R (p.Gly166Arg) 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 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
G166R (p.Gly166Arg) variant details
- p.Gly166Arg
- rs386833506
- ClinGen CA263269
- ClinVar RCV000049434
- Ensembl rs386833506
- Likely pathogenic
- Diastrophic dysplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.872
- REVEL 0.89
- ESM-1b 1.00
- AlphaMissense 0.99
- CADD 28.40
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely pathogenic (Diastrophic dysplasia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Diastrophic Dysplasia. (PMID 20301524)