A386V (p.Ala386Val) variant of SLC26A2 (Sulfate transporter)
A386V (p.Ala386Val) 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 0.73 / 1. The record also includes published literature and structural context.
A386V (p.Ala386Val) variant details
- p.Ala386Val
- rs386833493
- ClinGen CA263247
- ClinVar RCV000049421
- ClinVar RCV001388086
- Pathogenic/Likely pathogenic
- Achondrogenesis, type IB; Multiple epiphyseal dysplasia type 4; Atelosteogenesis
- Missense
- Variant Prioritization Score for Impact Estimate 0.731
- ESM-1b 0.63
- AlphaMissense 0.85
- MutPred 0.93
- ClinVar: Pathogenic/Likely pathogenic (Achondrogenesis, type IB; Multiple epiphyseal dysplasia type 4;)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Achondrogenesis Type 1B. (PMID 20301689)
- Cited in: SLC26A2-Related Atelosteogenesis. (PMID 20301493)