M1I (p.Met1Ile) variant of SLC26A2 (Sulfate transporter)
M1I (p.Met1Ile) in SLC26A2 (Sulfate transporter) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Achondrogenesis, type IB. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes published literature and structural context.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs1554095084
- ClinGen CA361703754
- ClinVar RCV000665913
- ClinVar RCV006640840
- Likely pathogenic
- Achondrogenesis, type IB
- Missense
- Variant Prioritization Score for Impact Estimate 0.684
- ESM-1b 1.00
- AlphaMissense 0.30
- ClinVar: Likely pathogenic (Achondrogenesis, type IB)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Achondrogenesis Type 1B. (PMID 20301689)
- Cited in: SLC26A2-Related Multiple Epiphyseal Dysplasia. (PMID 20301483)