L25Q (p.Leu25Gln) variant of GFAP (Glial fibrillary acidic protein)
L25Q (p.Leu25Gln) in GFAP (Glial fibrillary acidic protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data.
L25Q (p.Leu25Gln) variant details
- p.Leu25Gln
- ESP rs376999852
- TOPMed rs376999852
- gnomAD rs376999852
- Missense
- Variant Prioritization Score for Impact Estimate 0.518
- CADD 13.20
- PolyPhen-2 0.05
- SIFT 0.29
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)