N59S (p.Asn59Ser) variant of GFAP (Glial fibrillary acidic protein)
N59S (p.Asn59Ser) in GFAP (Glial fibrillary acidic protein) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
N59S (p.Asn59Ser) variant details
- p.Asn59Ser
- ExAC rs767627754
- gnomAD rs767627754
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.531
- CADD 23.40
- PolyPhen-2 0.96
- SIFT 0.16
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available