F43C (p.Phe43Cys) variant of G6PC2 (Glucose-6-phosphatase 2)
F43C (p.Phe43Cys) in G6PC2 (Glucose-6-phosphatase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
F43C (p.Phe43Cys) variant details
- p.Phe43Cys
- gnomAD rs1361961688
- cosmic curated COSV10727
- Missense
- Variant Prioritization Score for Impact Estimate 0.779
- REVEL 0.87
- CADD 27.20
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available