N31I (p.Asn31Ile) variant of G6PC2 (Glucose-6-phosphatase 2)
N31I (p.Asn31Ile) in G6PC2 (Glucose-6-phosphatase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
N31I (p.Asn31Ile) variant details
- p.Asn31Ile
- cosmic curated COSV56373
- ESP rs375350062
- ExAC rs375350062
- gnomAD rs375350062
- Missense
- Variant Prioritization Score for Impact Estimate 0.148
- REVEL 0.16
- CADD 8.98
- PolyPhen-2 0.01
- SIFT 0.39
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available