W59R (p.Trp59Arg) variant of G6PC2 (Glucose-6-phosphatase 2)
W59R (p.Trp59Arg) 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 0.58 / 1. The record also includes population frequency data and structural context.
W59R (p.Trp59Arg) variant details
- p.Trp59Arg
- rs369755574
- ESP rs369755574
- TOPMed rs369755574
- gnomAD rs369755574
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.576
- REVEL 0.63
- CADD 23.20
- PolyPhen-2 0.14
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available