L46W (p.Leu46Trp) variant of HFE (Q30201)
L46W (p.Leu46Trp) in HFE (Q30201) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
L46W (p.Leu46Trp) variant details
- p.Leu46Trp
- ExAC rs765114087
- gnomAD rs765114087
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- REVEL 0.37
- CADD 25.00
- PolyPhen-2 0.98
- SIFT 0.04
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available