V128I (p.Val128Ile) variant of GALT (P07902)
V128I (p.Val128Ile) 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; Galactosemia; n. The record also includes published literature and structural context.
V128I (p.Val128Ile) variant details
- p.Val128Ile
- rs2492865820
- ClinGen CA373280538
- ClinVar RCV003480440
- ClinVar RCV003502744
- Pathogenic/Likely pathogenic
- Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase; Galactosemia; n
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase;)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Classic Galactosemia and Clinical Variant Galactosemia. (PMID 20301691)
- Cited in: acmg act sheets and algorithms (PMID 21938795)