A267P (p.Ala267Pro) variant of GFAP (Glial fibrillary acidic protein)
A267P (p.Ala267Pro) 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 Alexander disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
A267P (p.Ala267Pro) variant details
- p.Ala267Pro
- rs797044581
- ClinGen CA347209
- ClinVar RCV000192147
- UniProt VAR 071550
- Pathogenic
- Alexander disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.877
- AlphaMissense 0.93
- MetaLR 0.94
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.63
- ClinVar: Pathogenic (Alexander disease)
- EBI: Pathogenic (in ALXDRD)
- UniProt: Pathogenic (in ALXDRD)
- Structural context available
- Cited in: Alexander disease with occipital predominance and a novel c.799G>C mutation in the GFAP gene. (PMID 17805552)
- Cited in: Alexander Disease. (PMID 20301351)