K60R (p.Lys60Arg) variant of G6PC1 (P35575)
K60R (p.Lys60Arg) in G6PC1 (P35575) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
K60R (p.Lys60Arg) variant details
- p.Lys60Arg
- ExAC rs761595049
- TOPMed rs761595049
- gnomAD rs761595049
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.10
- CADD 17.70
- PolyPhen-2 0.01
- SIFT 0.46
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available