H5N (p.His5Asn) variant of G6PC2 (Glucose-6-phosphatase 2)
H5N (p.His5Asn) in G6PC2 (Glucose-6-phosphatase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
H5N (p.His5Asn) variant details
- p.His5Asn
- gnomAD 2-168901344-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.648
- REVEL 0.63
- CADD 24.80
- PolyPhen-2 0.92
- SIFT 0.00
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- Literature evidence available