W246R (p.Trp246Arg) variant of SLC37A4 (O43826)
W246R (p.Trp246Arg) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
W246R (p.Trp246Arg) variant details
- p.Trp246Arg
- rs193302878
- UniProt VAR 066396
- Ensembl rs193302878
- Likely pathogenic
- Glucose-6-phosphate transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.674
- CADD 31.00
- PolyPhen-2 0.68
- SIFT 0.00
- ClinVar: Likely pathogenic (Glucose-6-phosphate transport defect)
- EBI: Pathogenic (in GSD1B)
- UniProt: Pathogenic (in GSD1B)
- Most common in the HGDP:SHE population (allele frequency 0.056)
- Structural context available
- Cited in: Glycogen storage disease type Ib: the first case in Taiwan. (PMID 19579760)
- Cited in: Inactivation of the glucose 6-phosphate transporter causes glycogen storage disease type 1b. (PMID 10026167)