D250V (p.Asp250Val) variant of SLC26A2 (Sulfate transporter)
D250V (p.Asp250Val) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes published literature and structural context.
D250V (p.Asp250Val) variant details
- p.Asp250Val
- rs2113697665
- ClinGen CA361706181
- ClinVar RCV001644999
- Ensembl rs2113697665
- Likely pathogenic
- Diastrophic dysplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.805
- ESM-1b 1.00
- AlphaMissense 0.46
- MutPred 0.74
- ClinVar: Likely pathogenic (Diastrophic dysplasia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Diastrophic Dysplasia. (PMID 20301524)