R148W (p.Arg148Trp) variant of GALT (P07902)
R148W (p.Arg148Trp) in GALT (P07902) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Inborn genetic diseases; Galactosemia; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
R148W (p.Arg148Trp) variant details
- p.Arg148Trp
- rs111033693
- ClinGen CA259393
- cosmic curated COSV10822
- ClinVar RCV000022113
- Pathogenic
- Inborn genetic diseases; Galactosemia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.765
- REVEL 0.81
- AlphaMissense 0.44
- MetaLR 0.99
- MetaSVM 1.03
- CADD 28.90
- PolyPhen-2 1.00
- ClinVar: Pathogenic (Inborn genetic diseases; Galactosemia; not provided)
- EBI: Pathogenic (in GALAC1)
- UniProt: Pathogenic (in GALAC1)
- Most common in the South Asian population (allele frequency 0.00019)
- Structural context available
- Cited in: Characterization of two missense mutations in human galactose-1-phosphate uridyltransferase: different molecular… (PMID 1373122)
- Cited in: Classic Galactosemia and Clinical Variant Galactosemia. (PMID 20301691)