N7D (p.Asn7Asp) variant of G6PC2 (Glucose-6-phosphatase 2)
N7D (p.Asn7Asp) in G6PC2 (Glucose-6-phosphatase 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes structural context.
N7D (p.Asn7Asp) variant details
- p.Asn7Asp
- rs1690585528
- ClinGen CA349107838
- ClinVar RCV004148078
- TOPMed rs1690585528
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- AlphaMissense 0.09
- MetaLR 0.59
- MetaSVM -0.35
- PolyPhen-2 0.00
- SIFT 0.20
- MutPred 0.32
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available