G80C (p.Gly80Cys) variant of SLC40A1 (Ferroportin)
G80C (p.Gly80Cys) in SLC40A1 (Ferroportin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of SLC40A1-related disorder; not provided; Hemochromatosis type 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes structural context.
G80C (p.Gly80Cys) variant details
- p.Gly80Cys
- rs978427853
- ClinGen CA349989668
- ClinVar RCV002293038
- ClinVar RCV003097823
- Conflicting interpretations
- SLC40A1-related disorder; not provided; Hemochromatosis type 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.969
- AlphaMissense 0.99
- MetaLR 0.98
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.92
- ClinVar: Conflicting classifications of pathogenicity (SLC40A1-related disorder; not provided; Hemochromatosis type 4)
- EBI: Likely pathogenic (in HFE4)
- UniProt: Likely pathogenic (in HFE4)
- Structural context available