Q454P (p.Gln454Pro) variant of SLC26A2 (Sulfate transporter)
Q454P (p.Gln454Pro) 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 Osteochondrodysplasia; SLC26A2-related disorder; Achondrogenesis, type IB. 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.
Q454P (p.Gln454Pro) variant details
- p.Gln454Pro
- rs104893921
- ClinGen CA116646
- ClinVar RCV000004311
- ClinVar RCV000055758
- Pathogenic/Likely pathogenic
- Osteochondrodysplasia; SLC26A2-related disorder; Achondrogenesis, type IB
- Missense
- Variant Prioritization Score for Impact Estimate 0.827
- REVEL 0.96
- ESM-1b 1.00
- AlphaMissense 0.33
- CADD 26.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Osteochondrodysplasia; SLC26A2-related disorder; Achondrogenesis)
- EBI: Pathogenic (in diatrophic dysplasia)
- UniProt: Pathogenic (in diatrophic dysplasia)
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: Homozygosity for a novel DTDST mutation in a child with a 'broad bone-platyspondylic' variant of diastrophic dysplasia. (PMID 10466420)
- Cited in: Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene: correlation between sulfate transport activity… (PMID 11448940)