I27M (p.Ile27Met) variant of SLC26A2 (Sulfate transporter)
I27M (p.Ile27Met) in SLC26A2 (Sulfate transporter) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes structural context.
I27M (p.Ile27Met) variant details
- p.Ile27Met
- rs387907491
- ClinGen CA216028
- ClinVar RCV000054573
- TOPMed rs387907491
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- ESM-1b 0.00
- AlphaMissense 0.07
- MutPred 0.17
- ClinVar: Uncertain significance (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available