L53F (p.Leu53Phe) variant of G6PC1 (P35575)
L53F (p.Leu53Phe) in G6PC1 (P35575) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
L53F (p.Leu53Phe) variant details
- p.Leu53Phe
- gnomAD 17-42901033-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.24
- MetaLR 0.28
- MetaSVM -0.74
- CADD 13.40
- PolyPhen-2 0.00
- SIFT 0.14
- Population evidence available
- Structural context available
- Literature evidence available