Y24H (p.Tyr24His) variant of SLC37A4 (O43826)
Y24H (p.Tyr24His) 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 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
Y24H (p.Tyr24His) variant details
- p.Tyr24His
- rs193302887
- UniProt VAR 025582
- Ensembl rs193302887
- Likely pathogenic
- Glucose-6-phosphate transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.664
- CADD 28.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Glucose-6-phosphate transport defect)
- EBI: Pathogenic (in GSD1B)
- UniProt: Pathogenic (in GSD1B)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Novel missense mutation (Y24H) in the G6PT1 gene causing glycogen storage disease type 1b. (PMID 12409273)
- Cited in: Structural basis for transport and inhibition of the human glucose-6-phosphate transporter G6PT. (PMID 41136424)