G204S (p.Gly204Ser) variant of SLC40A1 (Ferroportin)
G204S (p.Gly204Ser) 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 0.76 / 1. The record also includes population frequency data and structural context.
G204S (p.Gly204Ser) variant details
- p.Gly204Ser
- rs387907377
- ClinGen CA215966
- ClinVar RCV000049568
- ClinVar RCV000641707
- Pathogenic/Likely pathogenic
- Hemochromatosis type 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.763
- REVEL 0.74
- CADD 26.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Hemochromatosis type 4)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available