Q169H (p.Gln169His) variant of GALT (P07902)
Q169H (p.Gln169His) in GALT (P07902) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data, published literature, and structural context.
Q169H (p.Gln169His) variant details
- p.Gln169His
- rs1331718470
- ClinGen CA373281189
- ClinVar RCV003461648
- gnomAD rs1331718470
- Pathogenic
- Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
- Missense
- Variant Prioritization Score for Impact Estimate 0.921
- REVEL 0.96
- CADD 36.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available
- Cited in: Classic Galactosemia and Clinical Variant Galactosemia. (PMID 20301691)
- Cited in: acmg act sheets and algorithms (PMID 21938795)