R20P (p.Arg20Pro) variant of G6PC2 (Glucose-6-phosphatase 2)
R20P (p.Arg20Pro) in G6PC2 (Glucose-6-phosphatase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
R20P (p.Arg20Pro) variant details
- p.Arg20Pro
- ESP rs143670077
- ExAC rs143670077
- TOPMed rs143670077
- gnomAD rs143670077
- Missense
- Variant Prioritization Score for Impact Estimate 0.243
- REVEL 0.22
- CADD 17.90
- PolyPhen-2 0.00
- SIFT 0.22
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available