E64D (p.Glu64Asp) variant of GFAP (Glial fibrillary acidic protein)
E64D (p.Glu64Asp) in GFAP (Glial fibrillary acidic protein) is a missense change. Clinical records from ClinVar 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 0.18 / 1. The record also includes population frequency data and structural context.
E64D (p.Glu64Asp) variant details
- p.Glu64Asp
- cosmic curated COSV99493
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.177
- CADD 3.29
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available