F102C (p.Phe102Cys) variant of G6PD (P11413)
F102C (p.Phe102Cys) in G6PD (P11413) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
F102C (p.Phe102Cys) variant details
- p.Phe102Cys
- gnomAD rs886044847
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.718
- REVEL 0.86
- AlphaMissense 0.60
- MetaLR 0.97
- MetaSVM 1.09
- CADD 24.50
- PolyPhen-2 1.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available