C183R (p.Cys183Arg) variant of SLC37A4 (O43826)
C183R (p.Cys183Arg) in SLC37A4 (O43826) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Congenital disorder of glycosylation, type IIw; Glucose-6-phosphate transport de. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
C183R (p.Cys183Arg) variant details
- p.Cys183Arg
- rs193302893
- UniProt VAR 025595
- gnomAD rs193302893
- Pathogenic
- Congenital disorder of glycosylation, type IIw; Glucose-6-phosphate transport de
- Missense
- Variant Prioritization Score for Impact Estimate 0.578
- CADD 29.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Congenital disorder of glycosylation, type IIw; Glucose-6-phosph)
- EBI: Pathogenic (in GSD1B)
- UniProt: Pathogenic (in GSD1B)
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: Inactivation of the glucose 6-phosphate transporter causes glycogen storage disease type 1b. (PMID 10026167)
- Cited in: The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type… (PMID 10482962)