A77D (p.Ala77Asp) variant of SLC40A1 (Ferroportin)
A77D (p.Ala77Asp) 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 0.73 / 1. The record also includes published literature and structural context.
A77D (p.Ala77Asp) variant details
- p.Ala77Asp
- rs28939076
- ClinGen CA117517
- ClinVar RCV000005744
- UniProt VAR 022594
- Pathogenic
- Hemochromatosis type 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.733
- AlphaMissense 0.99
- MetaLR 0.65
- MetaSVM 0.35
- PolyPhen-2 1.00
- SIFT 0.02
- EVE 0.89
- ClinVar: Pathogenic (Hemochromatosis type 4)
- EBI: Pathogenic (in HFE4)
- UniProt: Pathogenic (in HFE4)
- Structural context available
- Cited in: A novel mammalian iron-regulated protein involved in intracellular iron metabolism. (PMID 10747949)
- Cited in: Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene. (PMID 11518736)