V338F (p.Val338Phe) variant of G6PC1 (P35575)
V338F (p.Val338Phe) 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; not pr. 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.
V338F (p.Val338Phe) variant details
- p.Val338Phe
- rs367727229
- ClinGen CA274168
- ClinVar RCV000169319
- ClinVar RCV004700522
- Pathogenic/Likely pathogenic
- Glycogen storage disease due to glucose-6-phosphatase deficiency type IA; not pr
- Missense
- Variant Prioritization Score for Impact Estimate 0.67
- REVEL 0.70
- MetaLR 0.62
- MetaSVM 0.27
- CADD 24.00
- PolyPhen-2 0.81
- 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 REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Mutations in the glucose-6-phosphatase gene of 53 Italian patients with glycogen storage disease type Ia. (PMID 10070617)
- Cited in: Glycogen storage disease type Ia: four novel mutations (175delGG, R170X, G266V and V338F) identified. Mutations in… (PMID 10094563)