R6S (p.Arg6Ser) variant of G6PC2 (Glucose-6-phosphatase 2)
R6S (p.Arg6Ser) in G6PC2 (Glucose-6-phosphatase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
R6S (p.Arg6Ser) variant details
- p.Arg6Ser
- gnomAD 2-168901349-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- REVEL 0.21
- CADD 12.80
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available