A148V (p.Ala148Val) variant of SLC37A4 (O43826)
A148V (p.Ala148Val) in SLC37A4 (O43826) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Glucose-6-phosphate transport defect. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
A148V (p.Ala148Val) variant details
- p.Ala148Val
- rs193302879
- UniProt VAR 066395
- ExAC rs193302879
- gnomAD rs193302879
- Pathogenic
- Glucose-6-phosphate transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.78
- CADD 27.00
- PolyPhen-2 0.65
- SIFT 0.01
- ClinVar: Pathogenic (Glucose-6-phosphate transport defect)
- EBI: Pathogenic (in GSD1B)
- UniProt: Pathogenic (in GSD1B)
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: A novel mutation (A148V) in the glucose 6-phosphate translocase (SLC37A4) gene in a Korean patient with glycogen… (PMID 15953877)
- Cited in: Inactivation of the glucose 6-phosphate transporter causes glycogen storage disease type 1b. (PMID 10026167)