I38N (p.Ile38Asn) variant of G6PC2 (Glucose-6-phosphatase 2)
I38N (p.Ile38Asn) in G6PC2 (Glucose-6-phosphatase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
I38N (p.Ile38Asn) variant details
- p.Ile38Asn
- gnomAD 2-168901444-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.462
- REVEL 0.51
- CADD 22.90
- PolyPhen-2 0.12
- SIFT 0.05
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- Literature evidence available