L19F (p.Leu19Phe) variant of G6PC1 (P35575)
L19F (p.Leu19Phe) in G6PC1 (P35575) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
L19F (p.Leu19Phe) variant details
- p.Leu19Phe
- gnomAD 17-42900931-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.777
- REVEL 0.77
- MetaLR 0.76
- MetaSVM 0.60
- CADD 25.20
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available