E19K (p.Glu19Lys) variant of GFAP (Glial fibrillary acidic protein)
E19K (p.Glu19Lys) in GFAP (Glial fibrillary acidic protein) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data.
E19K (p.Glu19Lys) variant details
- p.Glu19Lys
- NCI-TCGA Cosmic COSV5365
- cosmic curated COSV53650
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.684
- CADD 16.70
- PolyPhen-2 0.01
- SIFT 0.81
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 0.00048)