N144H (p.Asn144His) variant of SLC40A1 (Ferroportin)
N144H (p.Asn144His) 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 0.63 / 1. The record also includes published literature and structural context.
N144H (p.Asn144His) variant details
- p.Asn144His
- rs104893662
- ClinGen CA117515
- ClinVar RCV000005743
- UniProt VAR 022595
- Pathogenic
- Hemochromatosis type 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.628
- AlphaMissense 0.30
- MetaLR 0.74
- MetaSVM 0.66
- PolyPhen-2 0.93
- SIFT 0.11
- EVE 0.34
- ClinVar: Pathogenic (Hemochromatosis type 4)
- EBI: Pathogenic (in HFE4)
- UniProt: Pathogenic (in HFE4)
- Structural context available
- Cited in: A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis. (PMID 11431687)
- Cited in: Ferroportin disease mutations influence manganese accumulation and cytotoxicity. (PMID 30247984)