S25C (p.Ser25Cys) variant of SLC26A2 (Sulfate transporter)
S25C (p.Ser25Cys) 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 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
S25C (p.Ser25Cys) variant details
- p.Ser25Cys
- rs750742962
- ClinGen CA129082207
- ClinVar RCV003084458
- Ensembl rs750742962
- Uncertain significance
- Achondrogenesis, type IB; Multiple epiphyseal dysplasia type 4; Atelosteogenesis
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.21
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 15.40
- PolyPhen-2 0.00
- SIFT 0.01
- ClinVar: Uncertain significance (Achondrogenesis, type IB; Multiple epiphyseal dysplasia type 4;)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available
- Cited in: Achondrogenesis Type 1B. (PMID 20301689)
- Cited in: SLC26A2-Related Atelosteogenesis. (PMID 20301493)