N41D (p.Asn41Asp) variant of G6PC1 (P35575)
N41D (p.Asn41Asp) in G6PC1 (P35575) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.50 / 1. The record also includes published literature and structural context.
N41D (p.Asn41Asp) variant details
- p.Asn41Asp
- rs991463430
- ClinGen CA399650662
- ClinVar RCV002927031
- Uncertain significance
- Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
- Missense
- Variant Prioritization Score for Impact Estimate 0.497
- AlphaMissense 0.18
- MetaLR 0.53
- MetaSVM -0.18
- PolyPhen-2 1.00
- SIFT 0.28
- EVE 0.38
- ClinVar: Uncertain significance (Glycogen storage disease due to glucose-6-phosphatase deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)