E352G (p.Glu352Gly) variant of GALT (P07902)
E352G (p.Glu352Gly) in GALT (P07902) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
E352G (p.Glu352Gly) variant details
- p.Glu352Gly
- rs1821203474
- ClinGen CA373285344
- ClinVar RCV001201298
- ClinVar RCV001360296
- Conflicting interpretations
- not specified; Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
- Missense
- Variant Prioritization Score for Impact Estimate 0.828
- REVEL 0.99
- AlphaMissense 0.24
- MetaLR 0.96
- MetaSVM 1.09
- CADD 32.00
- PolyPhen-2 0.77
- ClinVar: Conflicting classifications of pathogenicity (not specified; Deficiency of UDPglucose-hexose-1-phosphate uridy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Classic Galactosemia and Clinical Variant Galactosemia. (PMID 20301691)
- Cited in: acmg act sheets and algorithms (PMID 21938795)