N375K (p.Asn375Lys) variant of GFAP (Glial fibrillary acidic protein)
N375K (p.Asn375Lys) 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 0.50 / 1. The record also includes published literature and structural context.
N375K (p.Asn375Lys) variant details
- p.Asn375Lys
- rs1567773470
- ClinGen CA399843303
- ClinVar RCV000722139
- Ensembl rs1567773470
- Likely pathogenic
- Alexander disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.503
- AlphaMissense 0.73
- MetaLR 0.54
- MetaSVM 0.36
- PolyPhen-2 0.09
- SIFT 0.00
- EVE 0.17
- ClinVar: Likely pathogenic (Alexander disease)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Alexander Disease. (PMID 20301351)
- Cited in: Nationwide survey of Alexander disease in Japan and proposed new guidelines for diagnosis. (PMID 21533827)