E58V (p.Glu58Val) variant of GALT (P07902)
E58V (p.Glu58Val) in GALT (P07902) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase. The record also includes published literature and structural context.
E58V (p.Glu58Val) variant details
- p.Glu58Val
- rs2492861943
- ClinGen CA373278673
- ClinVar RCV002609219
- ClinVar RCV004823045
- Conflicting interpretations
- not provided; Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
- Missense
- ClinVar: Conflicting classifications of pathogenicity (not provided; Deficiency of UDPglucose-hexose-1-phosphate uridyl)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Classic Galactosemia and Clinical Variant Galactosemia. (PMID 20301691)
- Cited in: acmg act sheets and algorithms (PMID 21938795)