H132Y (p.His132Tyr) variant of GALT (P07902)
H132Y (p.His132Tyr) in GALT (P07902) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Galactosemia; Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
H132Y (p.His132Tyr) variant details
- p.His132Tyr
- rs111033688
- ClinGen CA259382
- ClinVar RCV000022102
- ClinVar RCV001831616
- Likely pathogenic
- Galactosemia; Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
- Missense
- Variant Prioritization Score for Impact Estimate 0.835
- REVEL 0.90
- AlphaMissense 0.46
- MetaLR 0.99
- MetaSVM 1.02
- CADD 25.40
- PolyPhen-2 1.00
- ClinVar: Likely pathogenic (Galactosemia; Deficiency of UDPglucose-hexose-1-phosphate uridyl)
- EBI: Pathogenic (in GALAC1)
- UniProt: Pathogenic (in GALAC1)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene. (PMID 10408771)
- Cited in: Classic Galactosemia and Clinical Variant Galactosemia. (PMID 20301691)