C109Y (p.Cys109Tyr) variant of G6PC1 (P35575)
C109Y (p.Cys109Tyr) in G6PC1 (P35575) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; Glycogen storage disease due to glucose-6-phosphatase d. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
C109Y (p.Cys109Tyr) variant details
- p.Cys109Tyr
- rs886052955
- ClinGen CA10649309
- ClinVar RCV000270253
- ClinVar RCV001267229
- Conflicting interpretations
- Inborn genetic diseases; Glycogen storage disease due to glucose-6-phosphatase d
- Missense
- Variant Prioritization Score for Impact Estimate 0.889
- REVEL 0.96
- CADD 27.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Glycogen storage disease due to glucose)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the East Asian population (allele frequency 0.00038)
- 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)