I92V (p.Ile92Val) variant of SLC37A4 (O43826)
I92V (p.Ile92Val) in SLC37A4 (O43826) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Glycogen storage disease, type I; Glucose-6-phosphate transport defect. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
I92V (p.Ile92Val) variant details
- p.Ile92Val
- gnomAD rs1280285676
- Uncertain significance
- Glycogen storage disease, type I; Glucose-6-phosphate transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.0786
- CADD 0.03
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Glycogen storage disease, type I; Glucose-6-phosphate transport)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available