S13F (p.Ser13Phe) variant of GFAP (Glial fibrillary acidic protein)
S13F (p.Ser13Phe) 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 0.74 / 1. The record also includes population frequency data.
S13F (p.Ser13Phe) variant details
- p.Ser13Phe
- TOPMed rs2051892058
- gnomAD rs2051892058
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.743
- CADD 23.40
- PolyPhen-2 0.36
- SIFT 0.20
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)