F75L (p.Phe75Leu) variant of G6PC1 (P35575)
F75L (p.Phe75Leu) in G6PC1 (P35575) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
F75L (p.Phe75Leu) variant details
- p.Phe75Leu
- gnomAD 17-42901099-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.546
- REVEL 0.56
- MetaLR 0.26
- MetaSVM -0.70
- CADD 23.90
- PolyPhen-2 0.98
- SIFT 0.58
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available