V44M (p.Val44Met) variant of GALT (P07902)
V44M (p.Val44Met) 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 0.83 / 1. The record also includes published literature and structural context.
V44M (p.Val44Met) variant details
- p.Val44Met
- rs111033647
- ClinGen CA252845
- ClinVar RCV000003795
- UniProt VAR 002552
- Pathogenic
- Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
- Missense
- Variant Prioritization Score for Impact Estimate 0.825
- AlphaMissense 0.74
- MetaLR 0.98
- MetaSVM 1.06
- PolyPhen-2 0.99
- SIFT 0.02
- EVE 0.46
- ClinVar: Pathogenic (Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase)
- EBI: Pathogenic (in GALAC1)
- UniProt: Pathogenic (in GALAC1)
- Structural context available
- Cited in: Molecular basis of galactosemia: mutations and polymorphisms in the gene encoding human galactose-1-phosphate… (PMID 2011574)
- Cited in: Classic Galactosemia and Clinical Variant Galactosemia. (PMID 20301691)