D157G (p.Asp157Gly) variant of SLC40A1 (Ferroportin)
D157G (p.Asp157Gly) in SLC40A1 (Ferroportin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hemochromatosis type 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
D157G (p.Asp157Gly) variant details
- p.Asp157Gly
- rs104893663
- ClinGen CA117519
- ClinVar RCV000005745
- UniProt VAR 022596
- Likely pathogenic
- Hemochromatosis type 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.956
- AlphaMissense 1.00
- MetaLR 0.95
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.97
- ClinVar: Likely pathogenic (Hemochromatosis type 4)
- EBI: Pathogenic (in HFE4)
- UniProt: Pathogenic (in HFE4)
- Structural context available
- Cited in: Molecular analyses of patients with hyperferritinemia and normal serum iron values reveal both L ferritin IRE and 3 new… (PMID 12730114)
- Cited in: Ferroportin disease mutations influence manganese accumulation and cytotoxicity. (PMID 30247984)