R333W (p.Arg333Trp) variant of GALT (P07902)
R333W (p.Arg333Trp) 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 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
R333W (p.Arg333Trp) variant details
- p.Arg333Trp
- rs111033800
- ClinGen CA252844
- ClinVar RCV000003794
- ClinVar RCV000723400
- Pathogenic
- Galactosemia; not provided; Deficiency of UDPglucose-hexose-1-phosphate uridylyl
- Missense
- Variant Prioritization Score for Impact Estimate 0.85
- REVEL 0.95
- CADD 29.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Galactosemia; not provided; Deficiency of UDPglucose-hexose-1-ph)
- EBI: Pathogenic (in GALAC1)
- UniProt: Pathogenic (in GALAC1)
- Most common in the Non-Finnish European population (allele frequency 5.4e-05)
- Structural context available
- Cited in: Molecular characterization of two galactosemia mutations: correlation of mutations with highly conserved domains in… (PMID 1897530)
- Cited in: Clinical and molecular spectra in galactosemic patients from neonatal screening in northeastern Italy: structural and… (PMID 25592817)