L19H (p.Leu19His) variant of G6PC1 (P35575)
L19H (p.Leu19His) in G6PC1 (P35575) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
L19H (p.Leu19His) variant details
- p.Leu19His
- gnomAD rs1291588614
- Missense
- Variant Prioritization Score for Impact Estimate 0.815
- REVEL 0.93
- CADD 27.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available