A715V (p.Ala715Val) variant of SLC26A2 (Sulfate transporter)
A715V (p.Ala715Val) 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 Diastrophic dysplasia; Multiple epiphyseal dysplasia type 4; Atelosteogenesis ty. 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.
A715V (p.Ala715Val) variant details
- p.Ala715Val
- rs104893918
- ClinGen CA252994
- ClinVar RCV000004309
- ClinVar RCV000675095
- Pathogenic/Likely pathogenic
- Diastrophic dysplasia; Multiple epiphyseal dysplasia type 4; Atelosteogenesis ty
- Missense
- Variant Prioritization Score for Impact Estimate 0.827
- REVEL 0.82
- ESM-1b 1.00
- AlphaMissense 0.78
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Diastrophic dysplasia; Multiple epiphyseal dysplasia type 4; Ate)
- EBI: Pathogenic (in AO2 and EDM4)
- UniProt: Pathogenic (in AO2 and EDM4)
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available
- Cited in: Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene: correlation between sulfate transport activity… (PMID 11448940)
- Cited in: Functional expression and cellular distribution of diastrophic dysplasia sulfate transporter (DTDST) gene mutations in… (PMID 15294877)