Q51H (p.Gln51His) variant of G6PC2 (Glucose-6-phosphatase 2)
Q51H (p.Gln51His) 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 0.24 / 1. The record also includes population frequency data and structural context.
Q51H (p.Gln51His) variant details
- p.Gln51His
- NCI-TCGA Cosmic COSV9996
- cosmic curated COSV99960
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.24
- REVEL 0.13
- CADD 18.00
- PolyPhen-2 0.00
- SIFT 0.13
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available