S15L (p.Ser15Leu) variant of G6PC1 (P35575)
S15L (p.Ser15Leu) in G6PC1 (P35575) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
S15L (p.Ser15Leu) variant details
- p.Ser15Leu
- gnomAD 17-42900920-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- REVEL 0.20
- MetaLR 0.21
- MetaSVM -0.79
- CADD 21.70
- PolyPhen-2 0.05
- SIFT 0.68
- Population evidence available
- Structural context available
- Literature evidence available