A715T (p.Ala715Thr) variant of SLC26A2 (Sulfate transporter)
A715T (p.Ala715Thr) 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; Diastrophic dysplasia; Multiple epiphyseal dysplasia t. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes published literature and structural context.
A715T (p.Ala715Thr) variant details
- p.Ala715Thr
- rs759438521
- ClinGen CA361709909
- NCI-TCGA Cosmic COSV5382
- ClinVar RCV002014921
- Likely pathogenic
- Achondrogenesis, type IB; Diastrophic dysplasia; Multiple epiphyseal dysplasia t
- Missense
- Variant Prioritization Score for Impact Estimate 0.835
- ESM-1b 1.00
- AlphaMissense 0.74
- MetaLR 0.74
- MetaSVM 0.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Achondrogenesis, type IB; Diastrophic dysplasia; Multiple epiphy)
- EBI: Likely pathogenic (in AO2 and EDM4)
- UniProt: Likely pathogenic (in AO2 and EDM4)
- Structural context available
- Cited in: Achondrogenesis Type 1B. (PMID 20301689)
- Cited in: SLC26A2-Related Atelosteogenesis. (PMID 20301493)