R30P (p.Arg30Pro) variant of GFAP (Glial fibrillary acidic protein)
R30P (p.Arg30Pro) in GFAP (Glial fibrillary acidic protein) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data.
R30P (p.Arg30Pro) variant details
- p.Arg30Pro
- ESP rs373688797
- ExAC rs373688797
- TOPMed rs373688797
- gnomAD rs373688797
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- CADD 17.60
- PolyPhen-2 0.09
- SIFT 0.07
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)