A76V (p.Ala76Val) variant of SLC37A4 (O43826)
A76V (p.Ala76Val) in SLC37A4 (O43826) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Glucose-6-phosphate transport defect. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
A76V (p.Ala76Val) variant details
- p.Ala76Val
- ExAC rs782429783
- TOPMed rs782429783
- gnomAD rs782429783
- Uncertain significance
- Glucose-6-phosphate transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.771
- CADD 24.70
- PolyPhen-2 1.00
- SIFT 0.07
- ClinVar: Uncertain significance (Glucose-6-phosphate transport defect)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available