K56R (p.Lys56Arg) variant of G6PC2 (Glucose-6-phosphatase 2)
K56R (p.Lys56Arg) in G6PC2 (Glucose-6-phosphatase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
K56R (p.Lys56Arg) variant details
- p.Lys56Arg
- gnomAD rs1167870453
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.26
- CADD 22.00
- PolyPhen-2 0.31
- SIFT 0.41
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available