L46P (p.Leu46Pro) variant of G6PC1 (P35575)
L46P (p.Leu46Pro) in G6PC1 (P35575) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
L46P (p.Leu46Pro) variant details
- p.Leu46Pro
- gnomAD rs1394723737
- Missense
- Variant Prioritization Score for Impact Estimate 0.695
- REVEL 0.74
- CADD 25.50
- PolyPhen-2 0.87
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available