F40C (p.Phe40Cys) variant of G6PC2 (Glucose-6-phosphatase 2)
F40C (p.Phe40Cys) in G6PC2 (Glucose-6-phosphatase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
F40C (p.Phe40Cys) variant details
- p.Phe40Cys
- ExAC rs780943361
- TOPMed rs780943361
- gnomAD rs780943361
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.24
- CADD 21.20
- PolyPhen-2 0.00
- SIFT 0.00
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available