P47Q (p.Pro47Gln) variant of GFAP (Glial fibrillary acidic protein)
P47Q (p.Pro47Gln) in GFAP (Glial fibrillary acidic protein) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data.
P47Q (p.Pro47Gln) variant details
- p.Pro47Gln
- 1000Genomes rs57474185
- ESP rs57474185
- ExAC rs57474185
- TOPMed rs57474185
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.597
- CADD 18.70
- PolyPhen-2 0.00
- SIFT 0.44
- EBI: Benign (in dbSNP:rs57474185)
- UniProt: Benign (in dbSNP:rs57474185)
- Most common in the East Asian population (allele frequency 0.00015)