T255N (p.Thr255Asn) variant of G6PC1 (P35575)
T255N (p.Thr255Asn) 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 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
T255N (p.Thr255Asn) variant details
- p.Thr255Asn
- rs2056092654
- ClinGen CA399656178
- NCI-TCGA Cosmic COSV5383
- ClinVar RCV003834505
- Likely pathogenic
- Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
- Missense
- Variant Prioritization Score for Impact Estimate 0.598
- REVEL 0.62
- MetaLR 0.47
- MetaSVM 0.03
- CADD 22.60
- PolyPhen-2 0.43
- SIFT 0.01
- ClinVar: Likely pathogenic (Glycogen storage disease due to glucose-6-phosphatase deficiency)
- EBI: Likely pathogenic (in GSD1A)
- UniProt: Likely pathogenic (in GSD1A)
- Most common in the African/African-American population (allele frequency 3e-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)