L44I (p.Leu44Ile) variant of HFE (Q30201)
L44I (p.Leu44Ile) in HFE (Q30201) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
L44I (p.Leu44Ile) variant details
- p.Leu44Ile
- TOPMed rs1310863912
- gnomAD rs1310863912
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- REVEL 0.12
- CADD 24.40
- PolyPhen-2 0.97
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available