L76P (p.Leu76Pro) variant of GFAP (Glial fibrillary acidic protein)
L76P (p.Leu76Pro) 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 0.30 / 1. The record also includes population frequency data and published literature.
L76P (p.Leu76Pro) variant details
- p.Leu76Pro
- rs2508949801
- ClinGen CA399848715
- ClinVar RCV003883277
- Likely pathogenic
- Alexander disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- CADD 5.17
- ClinVar: Likely pathogenic (Alexander disease)
- EBI: Likely pathogenic (in ALXDRD)
- UniProt: Likely pathogenic (in ALXDRD)
- Most common in the East Asian population (allele frequency 2.5e-05)
- Cited in: Alexander Disease. (PMID 20301351)
- Cited in: Nationwide survey of Alexander disease in Japan and proposed new guidelines for diagnosis. (PMID 21533827)