R231G (p.Arg231Gly) variant of GALT (P07902)
R231G (p.Arg231Gly) in GALT (P07902) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
R231G (p.Arg231Gly) variant details
- p.Arg231Gly
- rs111033749
- ClinGen CA373283318
- ClinVar RCV001057482
- TOPMed rs111033749
- Likely pathogenic
- Galactosemia; Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
- Missense
- Variant Prioritization Score for Impact Estimate 0.812
- REVEL 0.98
- AlphaMissense 0.07
- MetaLR 0.75
- MetaSVM 0.32
- CADD 29.70
- PolyPhen-2 0.00
- ClinVar: Likely pathogenic (Galactosemia; Deficiency of UDPglucose-hexose-1-phosphate uridyl)
- EBI: Pathogenic (in GALAC1)
- UniProt: Pathogenic (in GALAC1)
- 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)