F40S (p.Phe40Ser) variant of G6PC2 (Glucose-6-phosphatase 2)
F40S (p.Phe40Ser) in G6PC2 (Glucose-6-phosphatase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
F40S (p.Phe40Ser) variant details
- p.Phe40Ser
- ExAC rs780943361
- TOPMed rs780943361
- gnomAD rs780943361
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- REVEL 0.18
- CADD 16.90
- PolyPhen-2 0.00
- SIFT 0.28
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available