E64Q (p.Glu64Gln) variant of HFE (Q30201)
E64Q (p.Glu64Gln) in HFE (Q30201) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
E64Q (p.Glu64Gln) variant details
- p.Glu64Gln
- Ensembl rs1581666690
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- REVEL 0.25
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.03
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available