V62D (p.Val62Asp) variant of G6PC2 (Glucose-6-phosphatase 2)
V62D (p.Val62Asp) in G6PC2 (Glucose-6-phosphatase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
V62D (p.Val62Asp) variant details
- p.Val62Asp
- gnomAD rs1324745655
- Missense
- Variant Prioritization Score for Impact Estimate 0.81
- REVEL 0.93
- CADD 27.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available