S522F (p.Ser522Phe) variant of SLC26A2 (Sulfate transporter)
S522F (p.Ser522Phe) in SLC26A2 (Sulfate transporter) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Multiple epiphyseal dysplasia type 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
S522F (p.Ser522Phe) variant details
- p.Ser522Phe
- rs1561822760
- ClinGen CA361708139
- ClinVar RCV000761587
- Ensembl rs1561822760
- Pathogenic
- Multiple epiphyseal dysplasia type 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.928
- ESM-1b 1.00
- AlphaMissense 0.88
- MutPred 0.79
- ClinVar: Pathogenic (Multiple epiphyseal dysplasia type 4)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Multiple SLC26A2 mutations occurring in a three-generational family. (PMID 29024831)
- Cited in: SLC26A2-Related Multiple Epiphyseal Dysplasia. (PMID 20301483)