N31S (p.Asn31Ser) variant of G6PC2 (Glucose-6-phosphatase 2)
N31S (p.Asn31Ser) in G6PC2 (Glucose-6-phosphatase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
N31S (p.Asn31Ser) variant details
- p.Asn31Ser
- ESP rs375350062
- ExAC rs375350062
- gnomAD rs375350062
- cosmic curated COSV10727
- Missense
- Variant Prioritization Score for Impact Estimate 0.122
- REVEL 0.14
- CADD 5.31
- PolyPhen-2 0.00
- SIFT 0.44
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available