N37I (p.Asn37Ile) variant of G6PC2 (Glucose-6-phosphatase 2)
N37I (p.Asn37Ile) in G6PC2 (Glucose-6-phosphatase 2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
N37I (p.Asn37Ile) variant details
- p.Asn37Ile
- gnomAD 2-168901439-GA-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.544
- CADD 25.60
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available