L20R (p.Leu20Arg) variant of HFE (Q30201)
L20R (p.Leu20Arg) in HFE (Q30201) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
L20R (p.Leu20Arg) variant details
- p.Leu20Arg
- ExAC rs779045932
- gnomAD rs779045932
- Missense
- Variant Prioritization Score for Impact Estimate 0.188
- REVEL 0.03
- CADD 10.90
- PolyPhen-2 0.02
- SIFT 0.67
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available