Y83S (p.Tyr83Ser) variant of GFAP (Glial fibrillary acidic protein)
Y83S (p.Tyr83Ser) in GFAP (Glial fibrillary acidic protein) is a missense change. The available record places it in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1.
Y83S (p.Tyr83Ser) variant details
- p.Tyr83Ser
- rs58454592
- ClinGen CA217171
- ClinVar RCV000056873
- Ensembl rs58454592
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.891
- AlphaMissense 0.97
- MetaLR 0.90
- MetaSVM 0.89
- PolyPhen-2 0.86
- SIFT 0.00
- EVE 0.80
- ClinVar: not provided (not provided)
- UniProt: Not provided (in ALXDRD)