S71C (p.Ser71Cys) variant of SLC40A1 (Ferroportin)
S71C (p.Ser71Cys) in SLC40A1 (Ferroportin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hemochromatosis type 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
S71C (p.Ser71Cys) variant details
- p.Ser71Cys
- rs1040988213
- ClinGen CA62904039
- ClinVar RCV002638225
- TOPMed rs1040988213
- Uncertain significance
- Hemochromatosis type 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.694
- REVEL 0.69
- AlphaMissense 0.32
- MetaLR 0.66
- MetaSVM 0.31
- CADD 29.30
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Hemochromatosis type 4)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available