T7N (p.Thr7Asn) variant of GFAP (Glial fibrillary acidic protein)
T7N (p.Thr7Asn) 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 0.56 / 1. The record also includes population frequency data.
T7N (p.Thr7Asn) variant details
- p.Thr7Asn
- rs748191931
- ClinGen CA8609133
- ClinVar RCV002750061
- ExAC rs748191931
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.559
- CADD 22.00
- PolyPhen-2 0.03
- SIFT 0.21
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)