Q13* (p.Gln13Ter) variant of GALT (P07902)
Q13* (p.Gln13Ter) in GALT (P07902) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes published literature and structural context.
Q13* (p.Gln13Ter) variant details
- p.Gln13Ter
- rs781347467
- ClinGen CA373278271
- ClinVar RCV003461645
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.664
- AlphaMissense 0.08
- MetaLR 0.91
- MetaSVM 0.93
- PolyPhen-2 0.01
- SIFT 0.33
- MutPred 0.12
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Classic Galactosemia and Clinical Variant Galactosemia. (PMID 20301691)
- Cited in: acmg act sheets and algorithms (PMID 21938795)