G23E (p.Gly23Glu) variant of GFAP (Glial fibrillary acidic protein)
G23E (p.Gly23Glu) in GFAP (Glial fibrillary acidic protein) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data.
G23E (p.Gly23Glu) variant details
- p.Gly23Glu
- gnomAD rs1469741542
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.573
- CADD 15.80
- PolyPhen-2 0.03
- SIFT 0.36
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)