Q182E (p.Gln182Glu) variant of SLC40A1 (Ferroportin)
Q182E (p.Gln182Glu) in SLC40A1 (Ferroportin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hemochromatosis type 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes structural context.
Q182E (p.Gln182Glu) variant details
- p.Gln182Glu
- rs1553493479
- ClinGen CA349988964
- ClinVar RCV000584746
- Ensembl rs1553493479
- Pathogenic
- Hemochromatosis type 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.849
- AlphaMissense 0.55
- MetaLR 0.91
- MetaSVM 0.98
- PolyPhen-2 1.00
- SIFT 0.04
- EVE 0.93
- ClinVar: Pathogenic (Hemochromatosis type 4)
- EBI: Pathogenic (in HFE4)
- UniProt: Pathogenic (in HFE4)
- Structural context available