N7T (p.Asn7Thr) variant of G6PC2 (Glucose-6-phosphatase 2)
N7T (p.Asn7Thr) in G6PC2 (Glucose-6-phosphatase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
N7T (p.Asn7Thr) variant details
- p.Asn7Thr
- gnomAD rs1690585591
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.14
- CADD 17.10
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available