F3L (p.Phe3Leu) variant of G6PC2 (Glucose-6-phosphatase 2)
F3L (p.Phe3Leu) in G6PC2 (Glucose-6-phosphatase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
F3L (p.Phe3Leu) variant details
- p.Phe3Leu
- gnomAD 2-168901338-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.21
- CADD 18.40
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available