L4F (p.Leu4Phe) variant of G6PC2 (Glucose-6-phosphatase 2)
L4F (p.Leu4Phe) in G6PC2 (Glucose-6-phosphatase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
L4F (p.Leu4Phe) variant details
- p.Leu4Phe
- TOPMed rs1385272675
- gnomAD rs1385272675
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.25
- CADD 22.20
- PolyPhen-2 0.01
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available