G18R (p.Gly18Arg) variant of GFAP (Glial fibrillary acidic protein)
G18R (p.Gly18Arg) in GFAP (Glial fibrillary acidic protein) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data.
G18R (p.Gly18Arg) variant details
- p.Gly18Arg
- rs1354251613
- Ensembl rs1354251613
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.215
- CADD 9.75
- PolyPhen-2 0.00
- SIFT 0.14
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)