H14S (p.His14Ser) variant of G6PC2 (Glucose-6-phosphatase 2)
H14S (p.His14Ser) in G6PC2 (Glucose-6-phosphatase 2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
H14S (p.His14Ser) variant details
- p.His14Ser
- gnomAD 2-168901369-A-AGA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.541
- CADD 26.40
- Population evidence available
- Structural context available
- Literature evidence available