D181V (p.Asp181Val) variant of SLC40A1 (Ferroportin)
D181V (p.Asp181Val) 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 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
D181V (p.Asp181Val) variant details
- p.Asp181Val
- rs104893672
- ClinGen CA117525
- ClinVar RCV000005749
- UniProt VAR 030063
- Pathogenic
- Hemochromatosis type 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.844
- REVEL 0.98
- CADD 28.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Hemochromatosis type 4)
- EBI: Pathogenic (in HFE4)
- UniProt: Pathogenic (in HFE4)
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available
- Cited in: Genetic and clinical heterogeneity of ferroportin disease. (PMID 16351644)
- Cited in: A novel mammalian iron-regulated protein involved in intracellular iron metabolism. (PMID 10747949)