S157T (p.Ser157Thr) variant of SLC26A2 (Sulfate transporter)
S157T (p.Ser157Thr) in SLC26A2 (Sulfate transporter) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Achondrogenesis, type IB; Multiple epiphyseal dysplasia type 4; Atelosteogenesis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
S157T (p.Ser157Thr) variant details
- p.Ser157Thr
- rs776787689
- ClinGen CA361705059
- ClinVar RCV003037127
- Uncertain significance
- Achondrogenesis, type IB; Multiple epiphyseal dysplasia type 4; Atelosteogenesis
- Missense
- Variant Prioritization Score for Impact Estimate 0.852
- REVEL 0.99
- ESM-1b 1.00
- AlphaMissense 0.61
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Achondrogenesis, type IB; Multiple epiphyseal dysplasia type 4;)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)
- Structural context available
- Cited in: Achondrogenesis Type 1B. (PMID 20301689)
- Cited in: SLC26A2-Related Atelosteogenesis. (PMID 20301493)