V64A (p.Val64Ala) variant of G6PC1 (P35575)
V64A (p.Val64Ala) in G6PC1 (P35575) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
V64A (p.Val64Ala) variant details
- p.Val64Ala
- gnomAD 17-42901067-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.592
- REVEL 0.61
- MetaLR 0.47
- MetaSVM -0.24
- CADD 26.00
- PolyPhen-2 0.98
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available