E352Q (p.Glu352Gln) variant of GALT (P07902)
E352Q (p.Glu352Gln) in GALT (P07902) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Galactosemia; Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
E352Q (p.Glu352Gln) variant details
- p.Glu352Gln
- rs762467883
- ClinGen CA5036277
- ClinVar RCV003610968
- ExAC rs762467883
- Pathogenic/Likely pathogenic
- Galactosemia; Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
- Missense
- Variant Prioritization Score for Impact Estimate 0.885
- REVEL 0.96
- CADD 27.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Galactosemia; Deficiency of UDPglucose-hexose-1-phosphate uridyl)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Classic Galactosemia and Clinical Variant Galactosemia. (PMID 20301691)
- Cited in: acmg act sheets and algorithms (PMID 21938795)