W158C (p.Trp158Cys) variant of SLC40A1 (Ferroportin)
W158C (p.Trp158Cys) 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 0.96 / 1. The record also includes structural context.
W158C (p.Trp158Cys) variant details
- p.Trp158Cys
- rs1423207026
- ClinGen CA349989126
- ClinVar RCV000689049
- Ensembl rs1423207026
- Pathogenic
- Hemochromatosis type 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.963
- AlphaMissense 1.00
- MetaLR 0.95
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.97
- ClinVar: Pathogenic (Hemochromatosis type 4)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available