L8I (p.Leu8Ile) variant of G6PC1 (P35575)
L8I (p.Leu8Ile) in G6PC1 (P35575) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
L8I (p.Leu8Ile) variant details
- p.Leu8Ile
- gnomAD 17-42900898-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- REVEL 0.27
- MetaLR 0.51
- MetaSVM 0.14
- CADD 20.00
- PolyPhen-2 0.14
- SIFT 0.13
- Population evidence available
- Structural context available
- Literature evidence available