G58C (p.Gly58Cys) variant of G6PC1 (P35575)
G58C (p.Gly58Cys) in G6PC1 (P35575) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
G58C (p.Gly58Cys) variant details
- p.Gly58Cys
- gnomAD 17-42901048-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.792
- REVEL 0.80
- MetaLR 0.71
- MetaSVM 0.58
- CADD 29.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available