Y14* (p.Tyr14Ter) variant of GFAP (Glial fibrillary acidic protein)
Y14* (p.Tyr14Ter) in GFAP (Glial fibrillary acidic protein) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data.
Y14* (p.Tyr14Ter) variant details
- p.Tyr14Ter
- 1000Genomes rs140252141
- ESP rs140252141
- ExAC rs140252141
- TOPMed rs140252141
- Likely benign
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.275
- CADD 27.40
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 0.00048)