G484D (p.Gly484Asp) variant of SLC26A2 (Sulfate transporter)
G484D (p.Gly484Asp) 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 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
G484D (p.Gly484Asp) variant details
- p.Gly484Asp
- rs386833496
- ClinGen CA263252
- ClinVar RCV000049424
- TOPMed rs386833496
- Likely pathogenic
- Diastrophic dysplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.655
- REVEL 0.80
- ESM-1b 1.00
- AlphaMissense 0.97
- CADD 23.70
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Likely pathogenic (Diastrophic dysplasia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Cited in: Diastrophic Dysplasia. (PMID 20301524)