T512K (p.Thr512Lys) variant of SLC26A2 (Sulfate transporter)
T512K (p.Thr512Lys) in SLC26A2 (Sulfate transporter) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Osteochondrodysplasia; SLC26A2-related disorder; Atelosteogenesis type II. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
T512K (p.Thr512Lys) variant details
- p.Thr512Lys
- rs121908078
- ClinGen CA116649
- ClinVar RCV000004315
- ClinVar RCV002512749
- Pathogenic
- Osteochondrodysplasia; SLC26A2-related disorder; Atelosteogenesis type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.77
- REVEL 0.72
- ESM-1b 0.91
- AlphaMissense 0.80
- CADD 25.70
- PolyPhen-2 0.98
- SIFT 0.02
- ClinVar: Pathogenic (Osteochondrodysplasia; SLC26A2-related disorder; Atelosteogenesi)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available
- Cited in: A novel mutation in the sulfate transporter gene SLC26A2 (DTDST) specific to the Finnish population causes de la… (PMID 18708426)
- Cited in: [A rare lethal bone dysplasia with recessive autosomic transmission]. (PMID 4644462)