F34L (p.Phe34Leu) variant of G6PD (P11413)
F34L (p.Phe34Leu) in G6PD (P11413) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
F34L (p.Phe34Leu) variant details
- p.Phe34Leu
- TOPMed rs1557233164
- gnomAD rs1557233164
- Missense
- Variant Prioritization Score for Impact Estimate 0.553
- REVEL 0.71
- CADD 22.60
- PolyPhen-2 0.25
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available