R70Q (p.Arg70Gln) variant of GFAP (Glial fibrillary acidic protein)
R70Q (p.Arg70Gln) 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 Alexander disease; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
R70Q (p.Arg70Gln) variant details
- p.Arg70Gln
- rs267607510
- ClinGen CA217152
- NCI-TCGA Cosmic COSV9949
- cosmic curated COSV99493
- Conflicting interpretations
- Alexander disease; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.731
- CADD 22.90
- PolyPhen-2 0.15
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Alexander disease; not provided)
- EBI: Pathogenic (in ALXDRD)
- UniProt: Pathogenic (in ALXDRD)
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: GFAP mutations and polymorphisms in 13 unrelated Italian patients affected by Alexander disease. (PMID 17894839)
- Cited in: Alexander Disease. (PMID 20301351)