L42F (p.Leu42Phe) variant of HFE (Q30201)
L42F (p.Leu42Phe) in HFE (Q30201) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
L42F (p.Leu42Phe) variant details
- p.Leu42Phe
- gnomAD rs1272354878
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- REVEL 0.14
- CADD 19.20
- PolyPhen-2 0.72
- SIFT 0.16
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available