R36K (p.Arg36Lys) variant of G6PC2 (Glucose-6-phosphatase 2)
R36K (p.Arg36Lys) in G6PC2 (Glucose-6-phosphatase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
R36K (p.Arg36Lys) variant details
- p.Arg36Lys
- gnomAD rs1365959497
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- REVEL 0.27
- CADD 17.70
- PolyPhen-2 0.01
- SIFT 0.06
- Population evidence available
- Structural context available