H301P (p.His301Pro) variant of SLC37A4 (O43826)
H301P (p.His301Pro) in SLC37A4 (O43826) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Glucose-6-phosphate transport defect; Phosphate transport defect. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
H301P (p.His301Pro) variant details
- p.His301Pro
- rs193302891
- UniProt VAR 025600
- gnomAD rs193302891
- Likely pathogenic
- Glucose-6-phosphate transport defect; Phosphate transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.658
- CADD 27.80
- PolyPhen-2 1.00
- SIFT 0.08
- ClinVar: Likely pathogenic (Glucose-6-phosphate transport defect; Phosphate transport defect)
- EBI: Pathogenic (in GSD1B)
- UniProt: Pathogenic (in GSD1B)
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- 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)