F52L (p.Phe52Leu) variant of GFAP (Glial fibrillary acidic protein)
F52L (p.Phe52Leu) in GFAP (Glial fibrillary acidic protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data.
F52L (p.Phe52Leu) variant details
- p.Phe52Leu
- Ensembl rs2051886633
- Missense
- Variant Prioritization Score for Impact Estimate 0.635
- CADD 24.80
- PolyPhen-2 1.00
- SIFT 0.27
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)