R49L (p.Arg49Leu) variant of GFAP (Glial fibrillary acidic protein)
R49L (p.Arg49Leu) in GFAP (Glial fibrillary acidic protein) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data.
R49L (p.Arg49Leu) variant details
- p.Arg49Leu
- ExAC rs747417926
- TOPMed rs747417926
- gnomAD rs747417926
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.625
- CADD 22.40
- PolyPhen-2 0.01
- SIFT 0.07
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)