P178A (p.Pro178Ala) variant of G6PC1 (P35575)
P178A (p.Pro178Ala) in G6PC1 (P35575) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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, published literature, and structural context.
P178A (p.Pro178Ala) variant details
- p.Pro178Ala
- rs763543607
- ClinGen CA8587599
- ClinVar RCV003050475
- UniProt VAR 065164
- Likely pathogenic
- Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
- Missense
- Variant Prioritization Score for Impact Estimate 0.666
- REVEL 0.62
- CADD 23.00
- PolyPhen-2 0.15
- SIFT 0.03
- ClinVar: Likely pathogenic (Glycogen storage disease due to glucose-6-phosphatase deficiency)
- EBI: Pathogenic (in GSD1A)
- UniProt: Pathogenic (in GSD1A)
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Mutation spectrum of the glucose-6-phosphatase gene and its implication in molecular diagnosis of Korean patients with… (PMID 15151508)
- Cited in: Mutations in the glucose-6-phosphatase gene of 53 Italian patients with glycogen storage disease type Ia. (PMID 10070617)