P44R (p.Pro44Arg) variant of GFAP (Glial fibrillary acidic protein)
P44R (p.Pro44Arg) in GFAP (Glial fibrillary acidic protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data.
P44R (p.Pro44Arg) variant details
- p.Pro44Arg
- TOPMed rs1353517133
- gnomAD rs1353517133
- Missense
- Variant Prioritization Score for Impact Estimate 0.466
- CADD 17.60
- PolyPhen-2 0.00
- SIFT 0.42
- Most common in the 1KG:MSL population (allele frequency 0.013)