F28L (p.Phe28Leu) variant of G6PC2 (Glucose-6-phosphatase 2)
F28L (p.Phe28Leu) in G6PC2 (Glucose-6-phosphatase 2) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
F28L (p.Phe28Leu) variant details
- p.Phe28Leu
- NCI-TCGA Cosmic COSV5637
- cosmic curated COSV56373
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.462
- REVEL 0.44
- CADD 20.30
- PolyPhen-2 0.09
- SIFT 0.79
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available