A26D (p.Ala26Asp) variant of GFAP (Glial fibrillary acidic protein)
A26D (p.Ala26Asp) 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 0.35 / 1. The record also includes population frequency data.
A26D (p.Ala26Asp) variant details
- p.Ala26Asp
- 1000Genomes rs139837765
- ESP rs139837765
- ExAC rs139837765
- TOPMed rs139837765
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- CADD 8.25
- PolyPhen-2 0.01
- SIFT 0.08
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:FRENCH population (allele frequency 0.019)