R178Q (p.Arg178Gln) variant of SLC40A1 (Ferroportin)
R178Q (p.Arg178Gln) in SLC40A1 (Ferroportin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Hemochromatosis type 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes structural context.
R178Q (p.Arg178Gln) variant details
- p.Arg178Gln
- rs1449300685
- ClinGen CA349988987
- ClinVar RCV001040815
- Ensembl rs1449300685
- Pathogenic/Likely pathogenic
- Hemochromatosis type 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.85
- AlphaMissense 0.91
- MetaLR 0.90
- MetaSVM 0.94
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.57
- ClinVar: Pathogenic/Likely pathogenic (Hemochromatosis type 4)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available