W50G (p.Trp50Gly) variant of G6PC1 (P35575)
W50G (p.Trp50Gly) in G6PC1 (P35575) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
W50G (p.Trp50Gly) variant details
- p.Trp50Gly
- gnomAD 17-42901024-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.692
- REVEL 0.75
- MetaLR 0.62
- MetaSVM 0.27
- CADD 27.60
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available