S45* (p.Ser45Ter) variant of GALT (P07902)
S45* (p.Ser45Ter) in GALT (P07902) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in GALAC1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
S45* (p.Ser45Ter) variant details
- p.Ser45Ter
- rs111033652
- ClinGen CA373278589
- ClinVar RCV000988177
- Ensembl rs111033652
- Pathogenic
- in GALAC1
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.935
- AlphaMissense 0.83
- MetaLR 0.99
- MetaSVM 0.98
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.87
- EBI: Pathogenic (in GALAC1)
- UniProt: Pathogenic (in GALAC1)
- Structural context available
- Cited in: Classic Galactosemia and Clinical Variant Galactosemia. (PMID 20301691)
- Cited in: acmg act sheets and algorithms (PMID 21938795)