L53P (p.Leu53Pro) variant of G6PC1 (P35575)
L53P (p.Leu53Pro) in G6PC1 (P35575) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
L53P (p.Leu53Pro) variant details
- p.Leu53Pro
- gnomAD 17-42901034-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.67
- REVEL 0.71
- MetaLR 0.64
- MetaSVM 0.37
- CADD 25.20
- PolyPhen-2 0.52
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available