W59C (p.Trp59Cys) variant of G6PC2 (Glucose-6-phosphatase 2)
W59C (p.Trp59Cys) in G6PC2 (Glucose-6-phosphatase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
W59C (p.Trp59Cys) variant details
- p.Trp59Cys
- gnomAD 2-168901508-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.805
- REVEL 0.80
- CADD 29.30
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- Literature evidence available