D51N (p.Asp51Asn) variant of GFAP (Glial fibrillary acidic protein)
D51N (p.Asp51Asn) 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 0.84 / 1.
D51N (p.Asp51Asn) variant details
- p.Asp51Asn
- rs1475697926
- ClinGen CA399849003
- ClinVar RCV001752141
- gnomAD rs1475697926
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.836
- AlphaMissense 0.78
- MetaLR 0.85
- MetaSVM 0.93
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.67
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance