R49W (p.Arg49Trp) variant of GFAP (Glial fibrillary acidic protein)
R49W (p.Arg49Trp) 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 specified; Alexander disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and published literature.
R49W (p.Arg49Trp) variant details
- p.Arg49Trp
- rs771283454
- ClinGen CA8609091
- ClinVar RCV002289285
- ClinVar RCV003324015
- Uncertain significance
- not specified; Alexander disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- CADD 25.00
- PolyPhen-2 0.88
- SIFT 0.00
- ClinVar: Uncertain significance (not specified; Alexander disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- Cited in: Alexander Disease. (PMID 20301351)
- Cited in: Nationwide survey of Alexander disease in Japan and proposed new guidelines for diagnosis. (PMID 21533827)