E207D (p.Glu207Asp) variant of GFAP (Glial fibrillary acidic protein)
E207D (p.Glu207Asp) in GFAP (Glial fibrillary acidic protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Alexander disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and published literature.
E207D (p.Glu207Asp) variant details
- p.Glu207Asp
- rs759844035
- ClinGen CA8608895
- ClinVar RCV004547288
- ExAC rs759844035
- Likely pathogenic
- Alexander disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- CADD 23.50
- PolyPhen-2 0.95
- SIFT 0.00
- ClinVar: Likely pathogenic (Alexander disease)
- EBI: Likely pathogenic (in ALXDRD)
- UniProt: Likely pathogenic (in ALXDRD)
- Most common in the African/African-American population (allele frequency 0.00041)
- Cited in: Alexander Disease. (PMID 20301351)
- Cited in: Nationwide survey of Alexander disease in Japan and proposed new guidelines for diagnosis. (PMID 21533827)