E39Q (p.Glu39Gln) variant of HFE (Q30201)
E39Q (p.Glu39Gln) in HFE (Q30201) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
E39Q (p.Glu39Gln) variant details
- p.Glu39Gln
- gnomAD 6-26090879-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- REVEL 0.07
- MetaLR 0.00
- MetaSVM -0.94
- CADD 14.20
- PolyPhen-2 0.01
- SIFT 0.89
- Population evidence available
- Structural context available
- Literature evidence available