D28N (p.Asp28Asn) variant of G6PC1 (P35575)
D28N (p.Asp28Asn) in G6PC1 (P35575) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Glycogen storage disease due to glucose-6-phosphatase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
D28N (p.Asp28Asn) variant details
- p.Asp28Asn
- rs750711451
- ClinGen CA8587487
- ClinVar RCV001124471
- ClinVar RCV004032254
- Uncertain significance
- not specified; Glycogen storage disease due to glucose-6-phosphatase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.506
- REVEL 0.32
- CADD 24.30
- PolyPhen-2 1.00
- SIFT 0.44
- ClinVar: Uncertain significance (not specified; Glycogen storage disease due to glucose-6-phospha)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.8e-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)