Q54* (p.Gln54Ter) variant of GALT (P07902)
Q54* (p.Gln54Ter) in GALT (P07902) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
Q54* (p.Gln54Ter) variant details
- p.Gln54Ter
- rs111033649
- ClinVar RCV004800251
- Ensembl rs111033649
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.852
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)