I67F (p.Ile67Phe) variant of G6PC1 (P35575)
I67F (p.Ile67Phe) in G6PC1 (P35575) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
I67F (p.Ile67Phe) variant details
- p.Ile67Phe
- gnomAD 17-42901075-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.593
- REVEL 0.65
- MetaLR 0.41
- MetaSVM -0.27
- CADD 23.70
- PolyPhen-2 0.80
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available