L120F (p.Leu120Phe) variant of SLC40A1 (Ferroportin)
L120F (p.Leu120Phe) in SLC40A1 (Ferroportin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
L120F (p.Leu120Phe) variant details
- p.Leu120Phe
- ExAC rs745342705
- gnomAD rs745342705
- Missense
- Variant Prioritization Score for Impact Estimate 0.698
- REVEL 0.63
- CADD 26.90
- PolyPhen-2 0.95
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available