G259V (p.Gly259Val) variant of SLC26A2 (Sulfate transporter)
G259V (p.Gly259Val) in SLC26A2 (Sulfate transporter) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic 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 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
G259V (p.Gly259Val) variant details
- p.Gly259Val
- rs769319202
- ClinGen CA3505319
- ClinVar RCV000671782
- ClinVar RCV002531295
- Likely pathogenic
- Achondrogenesis, type IB; Multiple epiphyseal dysplasia type 4; Atelosteogenesis
- Missense
- Variant Prioritization Score for Impact Estimate 0.91
- REVEL 0.97
- ESM-1b 1.00
- AlphaMissense 0.97
- CADD 27.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Achondrogenesis, type IB; Multiple epiphyseal dysplasia type 4;)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Achondrogenesis Type 1B. (PMID 20301689)
- Cited in: SLC26A2-Related Atelosteogenesis. (PMID 20301493)