R49Q (p.Arg49Gln) variant of GFAP (Glial fibrillary acidic protein)
R49Q (p.Arg49Gln) in GFAP (Glial fibrillary acidic protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data.
R49Q (p.Arg49Gln) variant details
- p.Arg49Gln
- rs747417926
- ClinGen CA8609090
- ClinVar RCV002590936
- ExAC rs747417926
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.661
- CADD 23.70
- PolyPhen-2 0.27
- SIFT 0.13
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)