R41* (p.Arg41Ter) variant of GFAP (Glial fibrillary acidic protein)
R41* (p.Arg41Ter) in GFAP (Glial fibrillary acidic protein) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data.
R41* (p.Arg41Ter) variant details
- p.Arg41Ter
- ExAC rs750178537
- TOPMed rs750178537
- gnomAD rs750178537
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.466
- CADD 36.00
- Most common in the HGDP:FRENCH population (allele frequency 0.019)