V74A (p.Val74Ala) variant of G6PC1 (P35575)
V74A (p.Val74Ala) in G6PC1 (P35575) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
V74A (p.Val74Ala) variant details
- p.Val74Ala
- gnomAD 17-42901097-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.651
- REVEL 0.74
- MetaLR 0.49
- MetaSVM -0.07
- CADD 26.10
- PolyPhen-2 0.49
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available