S385C (p.Ser385Cys) variant of GFAP (Glial fibrillary acidic protein)
S385C (p.Ser385Cys) 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 Alexander disease; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and published literature.
S385C (p.Ser385Cys) variant details
- p.Ser385Cys
- rs797044590
- ClinGen CA347231
- ClinVar RCV000192180
- ClinVar RCV000479686
- Pathogenic/Likely pathogenic
- Alexander disease; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.804
- CADD 29.30
- PolyPhen-2 0.93
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Alexander disease; not provided)
- EBI: Pathogenic (in ALXDRD)
- UniProt: Pathogenic (in ALXDRD)
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Cited in: Alexander Disease. (PMID 20301351)
- Cited in: Nationwide survey of Alexander disease in Japan and proposed new guidelines for diagnosis. (PMID 21533827)