L8P (p.Leu8Pro) variant of G6PC1 (P35575)
L8P (p.Leu8Pro) in G6PC1 (P35575) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
L8P (p.Leu8Pro) variant details
- p.Leu8Pro
- gnomAD 17-42900899-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.726
- REVEL 0.80
- MetaLR 0.66
- MetaSVM 0.42
- CADD 26.50
- PolyPhen-2 0.80
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available