R300H (p.Arg300His) variant of SLC37A4 (O43826)
R300H (p.Arg300His) in SLC37A4 (O43826) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Glycogen storage disease type 1 due to SLC37A4 mutation; Congenital disorder of. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
R300H (p.Arg300His) variant details
- p.Arg300His
- rs193302903
- UniProt VAR 025599
- gnomAD rs193302903
- Pathogenic/Likely pathogenic
- Glycogen storage disease type 1 due to SLC37A4 mutation; Congenital disorder of
- Missense
- Variant Prioritization Score for Impact Estimate 0.806
- CADD 28.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Glycogen storage disease type 1 due to SLC37A4 mutation; Congeni)
- EBI: Pathogenic (in GSD1B)
- UniProt: Pathogenic (in GSD1B)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Structure and mutation analysis of the glycogen storage disease type 1b gene. (PMID 9781688)
- Cited in: Inactivation of the glucose 6-phosphate transporter causes glycogen storage disease type 1b. (PMID 10026167)