N37S (p.Asn37Ser) variant of G6PC2 (Glucose-6-phosphatase 2)
N37S (p.Asn37Ser) in G6PC2 (Glucose-6-phosphatase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
N37S (p.Asn37Ser) variant details
- p.Asn37Ser
- ExAC rs777162017
- gnomAD rs777162017
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- REVEL 0.40
- CADD 22.80
- PolyPhen-2 0.54
- SIFT 0.12
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available