E64D (p.Glu64Asp) variant of HFE (Q30201)
E64D (p.Glu64Asp) in HFE (Q30201) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
E64D (p.Glu64Asp) variant details
- p.Glu64Asp
- 1000Genomes rs556335391
- ExAC rs556335391
- gnomAD rs556335391
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- REVEL 0.20
- CADD 23.60
- PolyPhen-2 0.98
- SIFT 0.07
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available