N7K (p.Asn7Lys) variant of G6PC2 (Glucose-6-phosphatase 2)
N7K (p.Asn7Lys) in G6PC2 (Glucose-6-phosphatase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
N7K (p.Asn7Lys) variant details
- p.Asn7Lys
- gnomAD 2-168901352-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.194
- REVEL 0.20
- CADD 16.20
- PolyPhen-2 0.01
- SIFT 0.29
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- Literature evidence available