A37T (p.Ala37Thr) variant of G6PC1 (P35575)
A37T (p.Ala37Thr) in G6PC1 (P35575) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Glycogen storage disease due to glucose-6-phosphatase deficiency t. 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.
A37T (p.Ala37Thr) variant details
- p.Ala37Thr
- rs781064575
- ClinGen CA8587493
- NCI-TCGA Cosmic COSV5383
- cosmic curated COSV53831
- Uncertain significance
- not provided; Glycogen storage disease due to glucose-6-phosphatase deficiency t
- Missense
- Variant Prioritization Score for Impact Estimate 0.671
- REVEL 0.59
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (not provided; Glycogen storage disease due to glucose-6-phosphat)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 6e-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)