D78Y (p.Asp78Tyr) variant of GFAP (Glial fibrillary acidic protein)
D78Y (p.Asp78Tyr) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1.
D78Y (p.Asp78Tyr) variant details
- p.Asp78Tyr
- rs797044571
- ClinGen CA399848697
- ClinVar RCV003064462
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.606
- AlphaMissense 0.48
- MetaLR 0.76
- MetaSVM 0.35
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.22
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic (in ALXDRD)
- UniProt: Pathogenic (in ALXDRD)