H319Q (p.His319Gln) variant of GALT (P07902)
H319Q (p.His319Gln) in GALT (P07902) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
H319Q (p.His319Gln) variant details
- p.His319Gln
- rs111033792
- ClinGen CA373284878
- ClinVar RCV001782172
- UniProt VAR 002616
- Pathogenic/Likely pathogenic
- Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
- Missense
- Variant Prioritization Score for Impact Estimate 0.639
- REVEL 0.94
- CADD 20.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase)
- EBI: Pathogenic (in GALAC1)
- UniProt: Pathogenic (in GALAC1)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Biochemical and molecular characterization of GALT gene from Indian galactosemia patients: identification of 10 novel… (PMID 23022339)
- Cited in: Molecular characterization of the H319Q galactosemia mutation. (PMID 8499924)