F102L (p.Phe102Leu) variant of G6PD (P11413)
F102L (p.Phe102Leu) in G6PD (P11413) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
F102L (p.Phe102Leu) variant details
- p.Phe102Leu
- TOPMed rs2070395578
- gnomAD rs2070395578
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- REVEL 0.64
- CADD 3.13
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available