G12R (p.Gly12Arg) variant of G6PC1 (P35575)
G12R (p.Gly12Arg) in G6PC1 (P35575) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
G12R (p.Gly12Arg) variant details
- p.Gly12Arg
- gnomAD 17-42900910-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.872
- REVEL 0.92
- MetaLR 0.85
- MetaSVM 0.86
- CADD 27.90
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available