N144T (p.Asn144Thr) variant of SLC40A1 (Ferroportin)
N144T (p.Asn144Thr) 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 0.67 / 1. The record also includes published literature and structural context.
N144T (p.Asn144Thr) variant details
- p.Asn144Thr
- rs1434101655
- UniProt VAR 030061
- Ensembl rs1434101655
- Pathogenic
- in HFE4
- Missense
- Variant Prioritization Score for Impact Estimate 0.671
- AlphaMissense 0.32
- MetaLR 0.83
- MetaSVM 0.62
- PolyPhen-2 1.00
- SIFT 0.04
- EVE 0.42
- EBI: Pathogenic (in HFE4)
- UniProt: Pathogenic (in HFE4)
- Structural context available
- Cited in: A novel mutation in ferroportin1 is associated with haemochromatosis in a Solomon Islands patient. (PMID 12865285)
- Cited in: Ferroportin disease mutations influence manganese accumulation and cytotoxicity. (PMID 30247984)