E7G (p.Glu7Gly) variant of SLC26A2 (Sulfate transporter)
E7G (p.Glu7Gly) in SLC26A2 (Sulfate transporter) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Atelosteogenesis type II; Diastrophic dysplasia; Multiple epiphyseal dysplasia t. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
E7G (p.Glu7Gly) variant details
- p.Glu7Gly
- gnomAD rs1473390687
- Uncertain significance
- Atelosteogenesis type II; Diastrophic dysplasia; Multiple epiphyseal dysplasia t
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- REVEL 0.21
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 22.90
- PolyPhen-2 0.00
- SIFT 0.00
- ClinVar: Uncertain significance (Atelosteogenesis type II; Diastrophic dysplasia; Multiple epiphy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available