W70G (p.Trp70Gly) variant of G6PC1 (P35575)
W70G (p.Trp70Gly) in G6PC1 (P35575) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
W70G (p.Trp70Gly) variant details
- p.Trp70Gly
- gnomAD 17-42901084-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.725
- REVEL 0.85
- MetaLR 0.50
- MetaSVM 0.03
- CADD 31.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available
- Literature evidence available