N50Y (p.Asn50Tyr) variant of G6PC2 (Glucose-6-phosphatase 2)
N50Y (p.Asn50Tyr) in G6PC2 (Glucose-6-phosphatase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
N50Y (p.Asn50Tyr) variant details
- p.Asn50Tyr
- gnomAD 2-168901479-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- REVEL 0.40
- CADD 23.60
- PolyPhen-2 0.77
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available