F3S (p.Phe3Ser) variant of G6PC2 (Glucose-6-phosphatase 2)
F3S (p.Phe3Ser) in G6PC2 (Glucose-6-phosphatase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
F3S (p.Phe3Ser) variant details
- p.Phe3Ser
- gnomAD rs1480492278
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.31
- CADD 22.70
- PolyPhen-2 0.02
- SIFT 0.19
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available