D181N (p.Asp181Asn) variant of SLC40A1 (Ferroportin)
D181N (p.Asp181Asn) 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 0.89 / 1. The record also includes structural context.
D181N (p.Asp181Asn) variant details
- p.Asp181Asn
- rs1553493481
- ClinGen CA349988971
- ClinVar RCV000584744
- Ensembl rs1553493481
- Pathogenic
- Hemochromatosis type 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.887
- AlphaMissense 0.93
- MetaLR 0.97
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.61
- ClinVar: Pathogenic (Hemochromatosis type 4)
- EBI: Pathogenic (in HFE4)
- UniProt: Pathogenic (in HFE4)
- Structural context available