W70R (p.Trp70Arg) variant of G6PC1 (P35575)
W70R (p.Trp70Arg) 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.
W70R (p.Trp70Arg) variant details
- p.Trp70Arg
- ExAC rs766030585
- gnomAD rs766030585
- Missense
- Variant Prioritization Score for Impact Estimate 0.781
- REVEL 0.87
- CADD 29.10
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available