G267D (p.Gly267Asp) variant of SLC40A1 (Ferroportin)
G267D (p.Gly267Asp) 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 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
G267D (p.Gly267Asp) variant details
- p.Gly267Asp
- rs104893664
- ClinGen CA117529
- ClinVar RCV000005751
- UniProt VAR 030064
- Pathogenic
- Hemochromatosis type 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.538
- REVEL 0.65
- CADD 14.60
- PolyPhen-2 0.34
- SIFT 0.57
- ClinVar: Pathogenic (Hemochromatosis type 4)
- EBI: Pathogenic (in HFE4)
- UniProt: Pathogenic (in HFE4)
- Most common in the African/African-American population (allele frequency 0.00041)
- 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)