L14I (p.Leu14Ile) variant of HFE (Q30201)
L14I (p.Leu14Ile) in HFE (Q30201) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. 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.
L14I (p.Leu14Ile) variant details
- p.Leu14Ile
- ExAC rs201657128
- TOPMed rs201657128
- gnomAD rs201657128
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.245
- REVEL 0.04
- CADD 13.50
- PolyPhen-2 0.20
- SIFT 0.08
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available