G678V (p.Gly678Val) variant of SLC26A2 (Sulfate transporter)
G678V (p.Gly678Val) in SLC26A2 (Sulfate transporter) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Osteochondrodysplasia; Achondrogenesis, type IB. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
G678V (p.Gly678Val) variant details
- p.Gly678Val
- rs104893916
- ClinGen CA259844
- ClinVar RCV000023570
- ClinVar RCV000055761
- Likely pathogenic
- Osteochondrodysplasia; Achondrogenesis, type IB
- Missense
- Variant Prioritization Score for Impact Estimate 0.673
- REVEL 0.62
- ESM-1b 1.00
- AlphaMissense 0.59
- CADD 24.90
- PolyPhen-2 0.95
- SIFT 0.00
- ClinVar: Likely pathogenic (Osteochondrodysplasia; Achondrogenesis, type IB)
- EBI: Pathogenic (in ACG1B)
- UniProt: Pathogenic (in ACG1B)
- Most common in the Non-Finnish European population (allele frequency 4.4e-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)