C653G (p.Cys653Gly) variant of SLC26A2 (Sulfate transporter)
C653G (p.Cys653Gly) in SLC26A2 (Sulfate transporter) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Diastrophic dysplasia; Atelosteogenesis type II; Achondrogenesis, type IB. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
C653G (p.Cys653Gly) variant details
- p.Cys653Gly
- rs104893924
- ClinGen CA361709507
- ClinVar RCV002791447
- ClinVar RCV004820919
- Likely pathogenic
- Diastrophic dysplasia; Atelosteogenesis type II; Achondrogenesis, type IB
- Missense
- Variant Prioritization Score for Impact Estimate 0.775
- REVEL 0.84
- ESM-1b 1.00
- AlphaMissense 0.37
- CADD 27.80
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely pathogenic (Diastrophic dysplasia; Atelosteogenesis type II; Achondrogenesis)
- EBI: Likely pathogenic (in EDM4)
- UniProt: Likely pathogenic (in EDM4)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Achondrogenesis Type 1B. (PMID 20301689)
- Cited in: SLC26A2-Related Atelosteogenesis. (PMID 20301493)