G179R (p.Gly179Arg) variant of GALT (P07902)
G179R (p.Gly179Arg) in GALT (P07902) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Galactosemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
G179R (p.Gly179Arg) variant details
- p.Gly179Arg
- rs1473851511
- ClinGen CA373281536
- ClinVar RCV003389286
- Likely pathogenic
- Galactosemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.959
- AlphaMissense 0.91
- MetaLR 1.00
- MetaSVM 0.94
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.90
- ClinVar: Likely pathogenic (Galactosemia)
- EBI: Likely pathogenic (in GALAC1)
- UniProt: Likely pathogenic (in GALAC1)
- Structural context available
- Cited in: Classic Galactosemia and Clinical Variant Galactosemia. (PMID 20301691)