N7S (p.Asn7Ser) variant of G6PC2 (Glucose-6-phosphatase 2)
N7S (p.Asn7Ser) in G6PC2 (Glucose-6-phosphatase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
N7S (p.Asn7Ser) variant details
- p.Asn7Ser
- gnomAD 2-168901351-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.226
- REVEL 0.13
- CADD 15.80
- PolyPhen-2 0.00
- SIFT 0.40
- Population evidence available
- Structural context available
- Literature evidence available