Y501C (p.Tyr501Cys) variant of SLC40A1 (Ferroportin)
Y501C (p.Tyr501Cys) 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 0.59 / 1. The record also includes structural context.
Y501C (p.Tyr501Cys) variant details
- p.Tyr501Cys
- rs1409883266
- ClinGen CA349986870
- ClinVar RCV001420137
- gnomAD rs1409883266
- Likely pathogenic
- Hemochromatosis type 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.594
- AlphaMissense 0.27
- MetaLR 0.77
- MetaSVM 0.59
- PolyPhen-2 0.93
- SIFT 0.15
- EVE 0.16
- ClinVar: Likely pathogenic (Hemochromatosis type 4)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available