D38Y (p.Asp38Tyr) variant of G6PC1 (P35575)
D38Y (p.Asp38Tyr) in G6PC1 (P35575) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
D38Y (p.Asp38Tyr) variant details
- p.Asp38Tyr
- gnomAD 17-42900988-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.845
- REVEL 0.91
- MetaLR 0.73
- MetaSVM 0.57
- CADD 27.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available