G56E (p.Gly56Glu) variant of GFAP (Glial fibrillary acidic protein)
G56E (p.Gly56Glu) in GFAP (Glial fibrillary acidic protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
G56E (p.Gly56Glu) variant details
- p.Gly56Glu
- TOPMed rs1196032125
- Missense
- Variant Prioritization Score for Impact Estimate 0.588
- CADD 16.90
- PolyPhen-2 0.00
- SIFT 0.41
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available