R66Q (p.Arg66Gln) variant of GFAP (Glial fibrillary acidic protein)
R66Q (p.Arg66Gln) in GFAP (Glial fibrillary acidic protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Alexander disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
R66Q (p.Arg66Gln) variant details
- p.Arg66Gln
- rs797044569
- ClinGen CA347183
- ClinVar RCV000192097
- ClinVar RCV001288188
- Conflicting interpretations
- not provided; Alexander disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.767
- AlphaMissense 0.86
- MetaLR 0.93
- MetaSVM 1.11
- CADD 25.80
- PolyPhen-2 0.70
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (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: GFAP mutations, age at onset, and clinical subtypes in Alexander disease. (PMID 21917775)
- Cited in: Alexander Disease. (PMID 20301351)