R33H (p.Arg33His) variant of GALT (P07902)
R33H (p.Arg33His) in GALT (P07902) is a missense 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 0.95 / 1. The record also includes population frequency data, published literature, and structural context.
R33H (p.Arg33His) variant details
- p.Arg33His
- rs111033829
- ClinGen CA259323
- ClinVar RCV000022051
- UniProt VAR 068534
- Pathogenic
- in GALAC1
- Missense
- Variant Prioritization Score for Impact Estimate 0.948
- AlphaMissense 0.91
- MetaLR 1.00
- MetaSVM 0.91
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.88
- EBI: Pathogenic (in GALAC1)
- UniProt: Pathogenic (in GALAC1)
- Population evidence available
- Structural context available
- Cited in: Mutational spectrum of classical galactosaemia in Spain and Portugal. (PMID 17041746)
- Cited in: Classic Galactosemia and Clinical Variant Galactosemia. (PMID 20301691)