S54R (p.Ser54Arg) variant of SLC37A4 (O43826)
S54R (p.Ser54Arg) in SLC37A4 (O43826) is a missense change. The available record places it in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
S54R (p.Ser54Arg) variant details
- p.Ser54Arg
- rs193302898
- UniProt VAR 025586
- Ensembl rs193302898
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.611
- CADD 26.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: not provided (not provided)
- EBI: Pathogenic (in GSD1B)
- UniProt: Pathogenic (in GSD1B)
- Population evidence available
- Structural context available
- Cited in: Mutation analysis in glycogen storage disease type 1 non-a. (PMID 11071391)
- Cited in: Inactivation of the glucose 6-phosphate transporter causes glycogen storage disease type 1b. (PMID 10026167)