R79S (p.Arg79Ser) variant of GFAP (Glial fibrillary acidic protein)
R79S (p.Arg79Ser) in GFAP (Glial fibrillary acidic protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1.
R79S (p.Arg79Ser) variant details
- p.Arg79Ser
- rs59793293
- ClinGen CA217163
- cosmic curated COSV99493
- ClinVar RCV000056866
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.885
- AlphaMissense 0.91
- MetaLR 0.89
- MetaSVM 1.05
- PolyPhen-2 0.47
- SIFT 0.00
- EVE 0.89
- ClinVar: Uncertain significance (not provided)
- EBI: Pathogenic (in ALXDRD)
- UniProt: Pathogenic (in ALXDRD)