R333G (p.Arg333Gly) variant of GALT (P07902)
R333G (p.Arg333Gly) in GALT (P07902) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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.
R333G (p.Arg333Gly) variant details
- p.Arg333Gly
- rs111033800
- ClinGen CA340109
- ClinVar RCV000003807
- ClinVar RCV001831511
- Pathogenic
- Galactosemia; Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
- Missense
- Variant Prioritization Score for Impact Estimate 0.808
- REVEL 0.91
- CADD 26.50
- PolyPhen-2 0.68
- SIFT 0.01
- ClinVar: 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 4.4e-05)
- Structural context available
- Cited in: Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene. (PMID 10408771)
- Cited in: Genetic basis of transferase-deficient galactosaemia in Ireland and the population history of the Irish Travellers. (PMID 10439960)