R416W (p.Arg416Trp) variant of GFAP (Glial fibrillary acidic protein)
R416W (p.Arg416Trp) in GFAP (Glial fibrillary acidic protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Inborn genetic diseases; not provided; Alexander disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
R416W (p.Arg416Trp) variant details
- p.Arg416Trp
- rs121909717
- ClinGen CA217140
- NCI-TCGA Cosmic COSV5364
- cosmic curated COSV53649
- Pathogenic
- Inborn genetic diseases; not provided; Alexander disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- CADD 24.00
- PolyPhen-2 0.95
- SIFT 0.00
- ClinVar: Pathogenic (Inborn genetic diseases; not provided; Alexander disease)
- EBI: Pathogenic (in ALXDRD)
- UniProt: Pathogenic (in ALXDRD)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease. (PMID 11138011)
- Cited in: Molecular findings in symptomatic and pre-symptomatic Alexander disease patients. (PMID 12034785)