N144D (p.Asn144Asp) variant of SLC40A1 (Ferroportin)
N144D (p.Asn144Asp) 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 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
N144D (p.Asn144Asp) variant details
- p.Asn144Asp
- rs104893662
- ClinGen CA349989223
- ClinVar RCV001858656
- UniProt VAR 030060
- Pathogenic
- Hemochromatosis type 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.667
- REVEL 0.69
- AlphaMissense 0.30
- MetaLR 0.74
- MetaSVM 0.66
- CADD 28.30
- PolyPhen-2 0.93
- ClinVar: Pathogenic (Hemochromatosis type 4)
- EBI: Pathogenic (in HFE4)
- UniProt: Pathogenic (in HFE4)
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available
- Cited in: Recent advances in understanding haemochromatosis: a transition state. (PMID 15466004)
- Cited in: Structure-function analysis of ferroportin defines the binding site and an alternative mechanism of action of hepcidin. (PMID 29237594)