N31D (p.Asn31Asp) variant of G6PC2 (Glucose-6-phosphatase 2)
N31D (p.Asn31Asp) in G6PC2 (Glucose-6-phosphatase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
N31D (p.Asn31Asp) variant details
- p.Asn31Asp
- Ensembl rs1690589638
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- REVEL 0.23
- CADD 16.60
- PolyPhen-2 0.01
- SIFT 0.20
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available