G23V (p.Gly23Val) variant of GFAP (Glial fibrillary acidic protein)
G23V (p.Gly23Val) 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.
G23V (p.Gly23Val) variant details
- p.Gly23Val
- gnomAD rs1469741542
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.575
- CADD 16.20
- PolyPhen-2 0.12
- SIFT 0.15
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)