L58F (p.Leu58Phe) variant of GFAP (Glial fibrillary acidic protein)
L58F (p.Leu58Phe) in GFAP (Glial fibrillary acidic protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
L58F (p.Leu58Phe) variant details
- p.Leu58Phe
- TOPMed rs2051885940
- Missense
- Variant Prioritization Score for Impact Estimate 0.659
- CADD 23.40
- PolyPhen-2 0.87
- SIFT 0.10
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available