N50S (p.Asn50Ser) variant of G6PC2 (Glucose-6-phosphatase 2)
N50S (p.Asn50Ser) in G6PC2 (Glucose-6-phosphatase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
N50S (p.Asn50Ser) variant details
- p.Asn50Ser
- TOPMed rs1690591451
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.30
- CADD 17.80
- PolyPhen-2 0.02
- SIFT 0.68
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available