E85K (p.Glu85Lys) variant of GFAP (Glial fibrillary acidic protein)
E85K (p.Glu85Lys) 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 0.80 / 1. The record also includes population frequency data.
E85K (p.Glu85Lys) variant details
- p.Glu85Lys
- rs907564777
- ClinGen CA291034253
- NCI-TCGA Cosmic COSV5365
- cosmic curated COSV53650
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.797
- CADD 27.50
- PolyPhen-2 0.87
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)