G490D (p.Gly490Asp) variant of SLC40A1 (Ferroportin)
G490D (p.Gly490Asp) 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 published literature and structural context.
G490D (p.Gly490Asp) variant details
- p.Gly490Asp
- rs1060501102
- ClinGen CA16610657
- ClinVar RCV000457416
- ClinVar RCV003983078
- Pathogenic
- Hemochromatosis type 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.85
- AlphaMissense 1.00
- MetaLR 0.79
- MetaSVM 0.66
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.96
- ClinVar: Pathogenic (Hemochromatosis type 4)
- EBI: Pathogenic (in HFE4)
- UniProt: Pathogenic (in HFE4)
- Structural context available
- Cited in: Novel mutation in ferroportin 1 gene is associated with autosomal dominant iron overload. (PMID 12873829)
- Cited in: In vitro functional analysis of human ferroportin (FPN) and hemochromatosis-associated FPN mutations. (PMID 15692071)