R6K (p.Arg6Lys) variant of G6PC2 (Glucose-6-phosphatase 2)
R6K (p.Arg6Lys) 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, published literature, and structural context.
R6K (p.Arg6Lys) variant details
- p.Arg6Lys
- gnomAD 2-168901348-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.30
- CADD 20.10
- PolyPhen-2 0.01
- SIFT 0.41
- Population evidence available
- Structural context available
- Literature evidence available