P178L (p.Pro178Leu) variant of G6PC1 (P35575)
P178L (p.Pro178Leu) in G6PC1 (P35575) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Glycogen storage disease due to glucose-6-phosphatase deficiency type IA. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
P178L (p.Pro178Leu) variant details
- p.Pro178Leu
- ExAC rs768803329
- TOPMed rs768803329
- gnomAD rs768803329
- Pathogenic/Likely pathogenic
- Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
- Missense
- Variant Prioritization Score for Impact Estimate 0.666
- REVEL 0.61
- CADD 23.90
- PolyPhen-2 0.40
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Glycogen storage disease due to glucose-6-phosphatase deficiency)
- EBI: Pathogenic (in GSD1A)
- UniProt: Pathogenic (in GSD1A)
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- Structural context available