Y83N (p.Tyr83Asn) variant of GFAP (Glial fibrillary acidic protein)
Y83N (p.Tyr83Asn) 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 0.76 / 1. The record also includes population frequency data.
Y83N (p.Tyr83Asn) variant details
- p.Tyr83Asn
- rs267607506
- ClinGen CA291034264
- ClinVar RCV002508567
- TOPMed rs267607506
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.761
- AlphaMissense 0.98
- MetaLR 0.93
- MetaSVM 1.08
- CADD 28.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance (in ALXDRD)
- UniProt: Uncertain significance (in ALXDRD)
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)