I426N (p.Ile426Asn) variant of SLC26A2 (Sulfate transporter)
I426N (p.Ile426Asn) 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; Diastrophic dysplasia; Multiple epiphyseal dysplasia t. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
I426N (p.Ile426Asn) variant details
- p.Ile426Asn
- rs2113698521
- ClinGen CA361707534
- ClinVar RCV002050752
- Ensembl rs2113698521
- Likely pathogenic
- Achondrogenesis, type IB; Diastrophic dysplasia; Multiple epiphyseal dysplasia t
- Missense
- Variant Prioritization Score for Impact Estimate 0.976
- ESM-1b 1.00
- AlphaMissense 0.95
- ClinVar: Likely pathogenic (Achondrogenesis, type IB; Diastrophic dysplasia; Multiple epiphy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Achondrogenesis Type 1B. (PMID 20301689)
- Cited in: SLC26A2-Related Atelosteogenesis. (PMID 20301493)