S53A (p.Ser53Ala) variant of GFAP (Glial fibrillary acidic protein)
S53A (p.Ser53Ala) 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 0.50 / 1. The record also includes population frequency data.
S53A (p.Ser53Ala) variant details
- p.Ser53Ala
- rs779437010
- ClinGen CA8609086
- ClinVar RCV003691167
- ExAC rs779437010
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.497
- CADD 22.50
- PolyPhen-2 0.13
- SIFT 0.11
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)