G23A (p.Gly23Ala) variant of GFAP (Glial fibrillary acidic protein)
G23A (p.Gly23Ala) in GFAP (Glial fibrillary acidic protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data.
G23A (p.Gly23Ala) variant details
- p.Gly23Ala
- rs1469741542
- ClinGen CA399849146
- ClinVar RCV002654093
- gnomAD rs1469741542
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.556
- CADD 13.40
- PolyPhen-2 0.02
- SIFT 0.59
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)