H14N (p.His14Asn) variant of G6PC2 (Glucose-6-phosphatase 2)
H14N (p.His14Asn) in G6PC2 (Glucose-6-phosphatase 2) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
H14N (p.His14Asn) variant details
- p.His14Asn
- rs746671578
- ExAC rs746671578
- gnomAD rs746671578
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.18
- CADD 19.40
- PolyPhen-2 0.00
- SIFT 0.03
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available