S71F (p.Ser71Phe) variant of SLC40A1 (Ferroportin)
S71F (p.Ser71Phe) in SLC40A1 (Ferroportin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hemochromatosis type 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes structural context.
S71F (p.Ser71Phe) variant details
- p.Ser71Phe
- rs1040988213
- ClinGen CA349989714
- ClinVar RCV001420125
- TOPMed rs1040988213
- Likely pathogenic
- Hemochromatosis type 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.569
- AlphaMissense 0.32
- MetaLR 0.66
- MetaSVM 0.31
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.23
- ClinVar: Likely pathogenic (Hemochromatosis type 4)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available