W70* (p.Trp70Ter) variant of G6PC1 (P35575)
W70* (p.Trp70Ter) in G6PC1 (P35575) 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 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
W70* (p.Trp70Ter) variant details
- p.Trp70Ter
- rs1567702823
- ClinGen CA399651447
- ClinVar RCV001004605
- gnomAD rs1567702823
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.784
- AlphaMissense 0.65
- MetaLR 0.59
- MetaSVM 0.21
- CADD 38.00
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Glycogen Storage Disease Type I. (PMID 20301489)
- Cited in: Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical… (PMID 25356975)