R333Q (p.Arg333Gln) variant of GALT (P07902)
R333Q (p.Arg333Gln) in GALT (P07902) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Galactosemia; not provided; Deficiency of UDPglucose-hexose-1-phosphate uridylyl. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
R333Q (p.Arg333Gln) variant details
- p.Arg333Gln
- rs111033808
- ClinGen CA259561
- cosmic curated COSV58840
- ClinVar RCV000022258
- Pathogenic
- Galactosemia; not provided; Deficiency of UDPglucose-hexose-1-phosphate uridylyl
- Missense
- Variant Prioritization Score for Impact Estimate 0.864
- REVEL 0.92
- AlphaMissense 0.66
- MetaLR 0.97
- MetaSVM 1.11
- CADD 28.20
- PolyPhen-2 0.99
- ClinVar: Pathogenic (Galactosemia; not provided; Deficiency of UDPglucose-hexose-1-ph)
- EBI: Pathogenic (in GALAC1)
- UniProt: Pathogenic (in GALAC1)
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Cited in: Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene. (PMID 10408771)
- Cited in: Classic Galactosemia and Clinical Variant Galactosemia. (PMID 20301691)