F49L (p.Phe49Leu) variant of SLC40A1 (Ferroportin)
F49L (p.Phe49Leu) in SLC40A1 (Ferroportin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hemochromatosis type 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
F49L (p.Phe49Leu) variant details
- p.Phe49Leu
- rs2468780568
- ClinGen CA349989854
- ClinVar RCV003505737
- Uncertain significance
- Hemochromatosis type 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.785
- REVEL 0.89
- CADD 25.70
- PolyPhen-2 0.94
- SIFT 0.07
- ClinVar: Uncertain significance (Hemochromatosis type 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available