F40F (p.Phe40Phe) variant of G6PC2 (Glucose-6-phosphatase 2)
F40F (p.Phe40Phe) in G6PC2 (Glucose-6-phosphatase 2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
F40F (p.Phe40Phe) variant details
- p.Phe40Phe
- rs1228304055
- gnomAD 2-168901451-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.542
- CADD 7.49
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- Literature evidence available