G80S (p.Gly80Ser) variant of SLC40A1 (Ferroportin)
G80S (p.Gly80Ser) in SLC40A1 (Ferroportin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Hemochromatosis type 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
G80S (p.Gly80Ser) variant details
- p.Gly80Ser
- rs978427853
- ClinGen CA62904035
- ClinVar RCV001385870
- UniProt VAR 030058
- Pathogenic/Likely pathogenic
- Hemochromatosis type 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.912
- REVEL 0.95
- AlphaMissense 0.99
- MetaLR 0.98
- MetaSVM 1.05
- CADD 26.90
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Hemochromatosis type 4)
- EBI: Pathogenic (in HFE4)
- UniProt: Pathogenic (in HFE4)
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Cited in: The ferroportin disease. (PMID 14757427)
- Cited in: Ferroportin disease mutations influence manganese accumulation and cytotoxicity. (PMID 30247984)