V42A (p.Val42Ala) variant of GALT (P07902)
V42A (p.Val42Ala) in GALT (P07902) is a missense change. Clinical records from ClinVar and UniProt describe it as pathogenic/likely pathogenic in the context of not specified; Galactosemia; Deficiency of UDPglucose-hexose-1-phosphate uridyly. The record also includes structural context.
V42A (p.Val42Ala) variant details
- p.Val42Ala
- Ensembl rs1587237002
- Pathogenic/Likely pathogenic
- not specified; Galactosemia; Deficiency of UDPglucose-hexose-1-phosphate uridyly
- Missense
- ClinVar: Pathogenic/Likely pathogenic (not specified; Galactosemia; Deficiency of UDPglucose-hexose-1-p)
- UniProt: Likely pathogenic
- Structural context available