V57M (p.Val57Met) variant of G6PC1 (P35575)
V57M (p.Val57Met) in G6PC1 (P35575) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
V57M (p.Val57Met) variant details
- p.Val57Met
- gnomAD rs1208223313
- Missense
- Variant Prioritization Score for Impact Estimate 0.78
- REVEL 0.78
- CADD 27.20
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available