D128N (p.Asp128Asn) variant of GFAP (Glial fibrillary acidic protein)
D128N (p.Asp128Asn) in GFAP (Glial fibrillary acidic protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Alexander disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and published literature.
D128N (p.Asp128Asn) variant details
- p.Asp128Asn
- rs267607509
- ClinGen CA217191
- NCI-TCGA Cosmic COSV9949
- cosmic curated COSV99493
- Pathogenic/Likely pathogenic
- not provided; Alexander disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.776
- CADD 25.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Alexander disease)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Cited in: Alexander Disease. (PMID 20301351)
- Cited in: Nationwide survey of Alexander disease in Japan and proposed new guidelines for diagnosis. (PMID 21533827)