Q182H (p.Gln182His) variant of SLC40A1 (Ferroportin)
Q182H (p.Gln182His) 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 0.92 / 1. The record also includes published literature and structural context.
Q182H (p.Gln182His) variant details
- p.Gln182His
- rs104893670
- ClinGen CA117521
- ClinVar RCV000005746
- UniProt VAR 022598
- Pathogenic
- Hemochromatosis type 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.922
- AlphaMissense 0.96
- MetaLR 0.89
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.02
- EVE 0.93
- ClinVar: Pathogenic (Hemochromatosis type 4)
- EBI: Pathogenic (in HFE4)
- UniProt: Pathogenic (in HFE4)
- Structural context available
- Cited in: Molecular analyses of patients with hyperferritinemia and normal serum iron values reveal both L ferritin IRE and 3 new… (PMID 12730114)
- Cited in: A novel mammalian iron-regulated protein involved in intracellular iron metabolism. (PMID 10747949)