F49C (p.Phe49Cys) variant of G6PC2 (Glucose-6-phosphatase 2)
F49C (p.Phe49Cys) in G6PC2 (Glucose-6-phosphatase 2) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
F49C (p.Phe49Cys) variant details
- p.Phe49Cys
- NCI-TCGA Cosmic COSV5637
- cosmic curated COSV56372
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.43
- REVEL 0.31
- CADD 24.10
- PolyPhen-2 0.00
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available