H5Q (p.His5Gln) variant of G6PC2 (Glucose-6-phosphatase 2)
H5Q (p.His5Gln) 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 0.32 / 1. The record also includes population frequency data and structural context.
H5Q (p.His5Gln) variant details
- p.His5Gln
- NCI-TCGA Cosmic COSV9996
- cosmic curated COSV99960
- Ensembl rs1690585460
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.43
- CADD 14.40
- PolyPhen-2 0.42
- SIFT 0.07
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available