C326F (p.Cys326Phe) variant of SLC40A1 (Ferroportin)
C326F (p.Cys326Phe) 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 0.53 / 1. The record also includes structural context.
C326F (p.Cys326Phe) variant details
- p.Cys326Phe
- rs1227198230
- ClinGen CA349987996
- ClinVar RCV002664278
- Likely pathogenic
- Hemochromatosis type 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.53
- AlphaMissense 0.54
- MetaLR 0.68
- MetaSVM 0.17
- PolyPhen-2 0.90
- SIFT 0.47
- EVE 0.10
- ClinVar: Likely pathogenic (Hemochromatosis type 4)
- EBI: Likely pathogenic (in iron overload)
- UniProt: Likely pathogenic (in iron overload)
- Structural context available