Q9* (p.Gln9Ter) variant of GALT (P07902)
Q9* (p.Gln9Ter) in GALT (P07902) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic in the context of in GALAC1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
Q9* (p.Gln9Ter) variant details
- p.Gln9Ter
- rs111033848
- ClinGen CA259309
- ClinVar RCV000022040
- Ensembl rs111033848
- Likely pathogenic
- in GALAC1
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.56
- CADD 33.00
- EBI: Likely pathogenic (in GALAC1)
- UniProt: Likely pathogenic (in GALAC1)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Classic Galactosemia and Clinical Variant Galactosemia. (PMID 20301691)
- Cited in: acmg act sheets and algorithms (PMID 21938795)