D69Y (p.Asp69Tyr) variant of G6PC1 (P35575)
D69Y (p.Asp69Tyr) in G6PC1 (P35575) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
D69Y (p.Asp69Tyr) variant details
- p.Asp69Tyr
- gnomAD 17-42901081-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.736
- REVEL 0.75
- MetaLR 0.58
- MetaSVM 0.19
- CADD 28.90
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available