L15A (p.Leu15Ala) variant of G6PC2 (Glucose-6-phosphatase 2)
L15A (p.Leu15Ala) in G6PC2 (Glucose-6-phosphatase 2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
L15A (p.Leu15Ala) variant details
- p.Leu15Ala
- gnomAD 2-168901372-ATT-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.472
- CADD 24.80
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available