T35S (p.Thr35Ser) variant of GFAP (Glial fibrillary acidic protein)
T35S (p.Thr35Ser) 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 0.08 / 1. The record also includes population frequency data.
T35S (p.Thr35Ser) variant details
- p.Thr35Ser
- rs754484687
- ClinGen CA8609106
- ClinVar RCV002569617
- ExAC rs754484687
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0774
- CADD 0.32
- PolyPhen-2 0.00
- SIFT 0.89
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)