N425D (p.Asn425Asp) variant of SLC26A2 (Sulfate transporter)
N425D (p.Asn425Asp) in SLC26A2 (Sulfate transporter) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of SLC26A2-related disorder; Atelosteogenesis type II; Multiple epiphyseal dysplasi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
N425D (p.Asn425Asp) variant details
- p.Asn425Asp
- rs104893920
- ClinGen CA259842
- ClinVar RCV000023569
- ClinVar RCV000055757
- Pathogenic/Likely pathogenic
- SLC26A2-related disorder; Atelosteogenesis type II; Multiple epiphyseal dysplasi
- Missense
- Variant Prioritization Score for Impact Estimate 0.835
- REVEL 0.93
- ESM-1b 1.00
- AlphaMissense 0.93
- CADD 26.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (SLC26A2-related disorder; Atelosteogenesis type II; Multiple epi)
- EBI: Pathogenic (in ACG1B)
- UniProt: Pathogenic (in ACG1B)
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Cited in: Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene: correlation between sulfate transport activity… (PMID 11448940)
- Cited in: Functional expression and cellular distribution of diastrophic dysplasia sulfate transporter (DTDST) gene mutations in… (PMID 15294877)