T35A (p.Thr35Ala) variant of GFAP (Glial fibrillary acidic protein)
T35A (p.Thr35Ala) in GFAP (Glial fibrillary acidic protein) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data.
T35A (p.Thr35Ala) variant details
- p.Thr35Ala
- ExAC rs754484687
- gnomAD rs754484687
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.0775
- CADD 2.18
- PolyPhen-2 0.00
- SIFT 0.43
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)