N77S (p.Asn77Ser) variant of GFAP (Glial fibrillary acidic protein)
N77S (p.Asn77Ser) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature.
N77S (p.Asn77Ser) variant details
- p.Asn77Ser
- rs57590980
- ClinGen CA217162
- ClinVar RCV000056865
- ClinVar RCV000192107
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.955
- AlphaMissense 0.96
- MetaLR 0.96
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.90
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic (in ALXDRD)
- UniProt: Pathogenic (in ALXDRD)
- Cited in: Glial fibrillary acidic protein mutations in infantile, juvenile, and adult forms of Alexander disease. (PMID 15732097)
- Cited in: GFAP mutations and polymorphisms in 13 unrelated Italian patients affected by Alexander disease. (PMID 17894839)