V53V (p.Val53Val) variant of G6PC2 (Glucose-6-phosphatase 2)
V53V (p.Val53Val) in G6PC2 (Glucose-6-phosphatase 2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
V53V (p.Val53Val) variant details
- p.Val53Val
- gnomAD 2-168901490-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.289
- CADD 10.50
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- Literature evidence available