N50I (p.Asn50Ile) variant of G6PC2 (Glucose-6-phosphatase 2)
N50I (p.Asn50Ile) in G6PC2 (Glucose-6-phosphatase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
N50I (p.Asn50Ile) variant details
- p.Asn50Ile
- gnomAD 2-168901480-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.504
- REVEL 0.49
- CADD 23.80
- PolyPhen-2 0.69
- SIFT 0.05
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- Literature evidence available