D28H (p.Asp28His) variant of GALT (P07902)
D28H (p.Asp28His) 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 0.67 / 1. The record also includes published literature and structural context.
D28H (p.Asp28His) variant details
- p.Asp28His
- rs111033636
- UniProt VAR 068533
- Ensembl rs111033636
- Pathogenic
- in GALAC1
- Missense
- Variant Prioritization Score for Impact Estimate 0.675
- AlphaMissense 0.17
- MetaLR 0.95
- MetaSVM 0.97
- PolyPhen-2 0.04
- SIFT 0.04
- MutPred 0.94
- EBI: Pathogenic (in GALAC1)
- UniProt: Pathogenic (in GALAC1)
- Structural context available
- Cited in: Mutational spectrum of classical galactosaemia in Spain and Portugal. (PMID 17041746)
- Cited in: Identification of mutations in the galactose-1-phosphate uridyltransferase (GALT) gene in 16 Turkish patients with… (PMID 10220154)