C653Y (p.Cys653Tyr) variant of SLC26A2 (Sulfate transporter)
C653Y (p.Cys653Tyr) in SLC26A2 (Sulfate transporter) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Achondrogenesis, type IB; Diastrophic dysplasia; Multiple epiphyseal dysplasia t. 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.
C653Y (p.Cys653Tyr) variant details
- p.Cys653Tyr
- rs1179580843
- ClinGen CA361709508
- ClinVar RCV002006672
- ClinVar RCV006269551
- Conflicting interpretations
- Achondrogenesis, type IB; Diastrophic dysplasia; Multiple epiphyseal dysplasia t
- Missense
- Variant Prioritization Score for Impact Estimate 0.91
- ESM-1b 1.00
- AlphaMissense 0.90
- MetaLR 0.86
- MetaSVM 0.84
- PolyPhen-2 1.00
- SIFT 0.20
- ClinVar: Conflicting classifications of pathogenicity (Achondrogenesis, type IB; Diastrophic dysplasia; Multiple epiphy)
- EBI: Likely pathogenic (in EDM4)
- UniProt: Likely pathogenic (in EDM4)
- Population evidence available
- Structural context available
- Cited in: Achondrogenesis Type 1B. (PMID 20301689)
- Cited in: SLC26A2-Related Atelosteogenesis. (PMID 20301493)