C326Y (p.Cys326Tyr) variant of SLC40A1 (Ferroportin)
C326Y (p.Cys326Tyr) 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 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
C326Y (p.Cys326Tyr) variant details
- p.Cys326Tyr
- rs1227198230
- ClinGen CA349987998
- ClinVar RCV003330188
- UniProt VAR 030066
- Pathogenic
- Hemochromatosis type 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.691
- REVEL 0.71
- AlphaMissense 0.54
- MetaLR 0.68
- MetaSVM 0.17
- CADD 25.80
- PolyPhen-2 0.90
- ClinVar: Pathogenic (Hemochromatosis type 4)
- EBI: Pathogenic (in iron overload)
- UniProt: Pathogenic (in iron overload)
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- Cited in: Recent advances in understanding haemochromatosis: a transition state. (PMID 15466004)