L9F (p.Leu9Phe) variant of HFE (Q30201)
L9F (p.Leu9Phe) in HFE (Q30201) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
L9F (p.Leu9Phe) variant details
- p.Leu9Phe
- ExAC rs763120100
- gnomAD rs763120100
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.184
- REVEL 0.05
- CADD 16.70
- PolyPhen-2 0.56
- SIFT 0.12
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available