H132Q (p.His132Gln) variant of GALT (P07902)
H132Q (p.His132Gln) in GALT (P07902) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Galactosemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
H132Q (p.His132Gln) variant details
- p.His132Gln
- rs367543256
- ClinGen CA259383
- ClinVar RCV000022103
- ClinVar RCV000723453
- Pathogenic
- Galactosemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.714
- REVEL 0.89
- CADD 24.70
- PolyPhen-2 0.98
- SIFT 0.02
- ClinVar: Pathogenic (Galactosemia)
- EBI: Pathogenic (in GALAC1)
- UniProt: Pathogenic (in GALAC1)
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available
- Cited in: Correlation assessment among clinical phenotypes, expression analysis and molecular modeling of 14 novel variations in… (PMID 22461411)
- Cited in: Classic Galactosemia and Clinical Variant Galactosemia. (PMID 20301691)