D111Y (p.Asp111Tyr) variant of SLC26A2 (Sulfate transporter)
D111Y (p.Asp111Tyr) 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 0.99 / 1. The record also includes published literature and structural context.
D111Y (p.Asp111Tyr) variant details
- p.Asp111Tyr
- rs386833503
- ClinGen CA263260
- ClinVar RCV000049431
- Ensembl rs386833503
- Likely pathogenic
- Diastrophic dysplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.988
- ESM-1b 1.00
- AlphaMissense 0.97
- MutPred 0.98
- ClinVar: Likely pathogenic (Diastrophic dysplasia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Diastrophic Dysplasia. (PMID 20301524)