L15F (p.Leu15Phe) variant of G6PC2 (Glucose-6-phosphatase 2)
L15F (p.Leu15Phe) in G6PC2 (Glucose-6-phosphatase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
L15F (p.Leu15Phe) variant details
- p.Leu15Phe
- gnomAD 2-168901376-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.639
- REVEL 0.72
- CADD 23.50
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available