G323D (p.Gly323Asp) variant of SLC40A1 (Ferroportin)
G323D (p.Gly323Asp) 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 0.90 / 1. The record also includes structural context.
G323D (p.Gly323Asp) variant details
- p.Gly323Asp
- rs104893671
- ClinGen CA349988018
- ClinVar RCV001420135
- Ensembl rs104893671
- Likely pathogenic
- Hemochromatosis type 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.895
- AlphaMissense 0.99
- MetaLR 0.89
- MetaSVM 0.95
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.79
- ClinVar: Likely pathogenic (Hemochromatosis type 4)
- EBI: Pathogenic (in HFE4)
- UniProt: Pathogenic (in HFE4)
- Structural context available