N27K (p.Asn27Lys) variant of SLC37A4 (O43826)
N27K (p.Asn27Lys) in SLC37A4 (O43826) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Glucose-6-phosphate transport defect; Glycogen storage disease, type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
N27K (p.Asn27Lys) variant details
- p.Asn27Lys
- rs193302889
- UniProt VAR 025583
- gnomAD rs193302889
- Conflicting interpretations
- Glucose-6-phosphate transport defect; Glycogen storage disease, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- CADD 23.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Glucose-6-phosphate transport defect; Glycogen storage disease,)
- EBI: Pathogenic (in GSD1B)
- UniProt: Pathogenic (in GSD1B)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Molecular analysis in glycogen storage disease 1 non-A: DHPLC detection of the highly prevalent exon 8 mutations of the… (PMID 10923042)
- Cited in: Inactivation of the glucose 6-phosphate transporter causes glycogen storage disease type 1b. (PMID 10026167)