S157P (p.Ser157Pro) variant of SLC26A2 (Sulfate transporter)
S157P (p.Ser157Pro) in SLC26A2 (Sulfate transporter) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Multiple epiphyseal dysplasia type 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
S157P (p.Ser157Pro) variant details
- p.Ser157Pro
- rs776787689
- ClinGen CA3505253
- ClinVar RCV002240137
- ExAC rs776787689
- Likely pathogenic
- Multiple epiphyseal dysplasia type 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.865
- REVEL 0.98
- ESM-1b 1.00
- AlphaMissense 0.97
- CADD 28.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Multiple epiphyseal dysplasia type 4)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Cited in: SLC26A2-Related Multiple Epiphyseal Dysplasia. (PMID 20301483)