G663R (p.Gly663Arg) variant of SLC26A2 (Sulfate transporter)
G663R (p.Gly663Arg) in SLC26A2 (Sulfate transporter) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/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 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
G663R (p.Gly663Arg) variant details
- p.Gly663Arg
- rs1554095397
- ClinGen CA361709574
- ClinVar RCV000665405
- ClinVar RCV001388087
- Pathogenic/Likely pathogenic
- Achondrogenesis, type IB; Multiple epiphyseal dysplasia type 4; Atelosteogenesis
- Missense
- Variant Prioritization Score for Impact Estimate 0.833
- REVEL 0.81
- ESM-1b 1.00
- AlphaMissense 0.98
- CADD 28.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Achondrogenesis, type IB; Multiple epiphyseal dysplasia type 4;)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:PALESTINIAN population (allele frequency 0.013)
- Structural context available
- Cited in: Achondrogenesis Type 1B. (PMID 20301689)
- Cited in: SLC26A2-Related Atelosteogenesis. (PMID 20301493)