Q9H (p.Gln9His) variant of GALT (P07902)
Q9H (p.Gln9His) 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 0.66 / 1. The record also includes published literature and structural context.
Q9H (p.Gln9His) variant details
- p.Gln9His
- rs111033637
- ClinGen CA259311
- ClinVar RCV000022041
- UniProt VAR 068531
- Pathogenic
- in GALAC1
- Missense
- Variant Prioritization Score for Impact Estimate 0.661
- AlphaMissense 0.12
- MetaLR 0.93
- MetaSVM 1.07
- PolyPhen-2 0.04
- SIFT 0.03
- MutPred 0.64
- EBI: Pathogenic (in GALAC1)
- UniProt: Pathogenic (in GALAC1)
- Structural context available
- Cited in: Mutations at the galactose-1-p-uridyltransferase gene in infants with a positive galactosemia newborn screening test. (PMID 11919338)
- Cited in: Classic Galactosemia and Clinical Variant Galactosemia. (PMID 20301691)