A330V (p.Ala330Val) variant of GALT (P07902)
A330V (p.Ala330Val) in GALT (P07902) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Galactosemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
A330V (p.Ala330Val) variant details
- p.Ala330Val
- rs111033804
- UniProt VAR 002624
- TOPMed rs111033804
- gnomAD rs111033804
- Likely pathogenic
- Galactosemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.87
- REVEL 0.94
- AlphaMissense 0.57
- MetaLR 0.98
- MetaSVM 1.03
- CADD 25.90
- PolyPhen-2 1.00
- ClinVar: Likely pathogenic (Galactosemia)
- EBI: Pathogenic (in GALAC1)
- UniProt: Pathogenic (in GALAC1)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Mutations in the galactose-1-phosphate uridyltransferase gene of two families with mild galactosaemia variants. (PMID 8598637)
- Cited in: Identification of mutations in the galactose-1-phosphate uridyltransferase (GALT) gene in 16 Turkish patients with… (PMID 10220154)