N77D (p.Asn77Asp) variant of GFAP (Glial fibrillary acidic protein)
N77D (p.Asn77Asp) 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 0.96 / 1.
N77D (p.Asn77Asp) variant details
- p.Asn77Asp
- rs58732244
- ClinGen CA399848709
- ClinVar RCV002043282
- Ensembl rs58732244
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.963
- AlphaMissense 0.99
- MetaLR 0.96
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.93
- ClinVar: Uncertain significance (not provided)
- EBI: Pathogenic (in ALXDRD)
- UniProt: Pathogenic (in ALXDRD)