Y64N (p.Tyr64Asn) variant of SLC40A1 (Ferroportin)
Y64N (p.Tyr64Asn) in SLC40A1 (Ferroportin) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in HFE4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes published literature and structural context.
Y64N (p.Tyr64Asn) variant details
- p.Tyr64Asn
- rs1285653301
- UniProt VAR 030057
- Ensembl rs1285653301
- Pathogenic
- in HFE4
- Missense
- Variant Prioritization Score for Impact Estimate 0.623
- AlphaMissense 0.97
- MetaLR 0.65
- MetaSVM 0.37
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.38
- EBI: Pathogenic (in HFE4)
- UniProt: Pathogenic (in HFE4)
- Structural context available
- Cited in: Autosomal dominant reticuloendothelial iron overload (HFE type 4) due to a new missense mutation in the FERROPORTIN 1… (PMID 12857562)
- Cited in: A novel mammalian iron-regulated protein involved in intracellular iron metabolism. (PMID 10747949)