N27S (p.Asn27Ser) variant of G6PC2 (Glucose-6-phosphatase 2)
N27S (p.Asn27Ser) in G6PC2 (Glucose-6-phosphatase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
N27S (p.Asn27Ser) variant details
- p.Asn27Ser
- 1000Genomes rs546055009
- ExAC rs546055009
- gnomAD rs546055009
- Missense
- Variant Prioritization Score for Impact Estimate 0.21
- REVEL 0.13
- CADD 15.90
- PolyPhen-2 0.00
- SIFT 0.42
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available