S47F (p.Ser47Phe) variant of SLC40A1 (Ferroportin)
S47F (p.Ser47Phe) 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 0.70 / 1. The record also includes structural context.
S47F (p.Ser47Phe) variant details
- p.Ser47Phe
- rs2105631748
- ClinGen CA349989861
- ClinVar RCV001420116
- Ensembl rs2105631748
- Uncertain significance
- Hemochromatosis type 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.695
- AlphaMissense 0.97
- MetaLR 0.77
- MetaSVM 0.60
- PolyPhen-2 0.92
- SIFT 0.01
- EVE 0.36
- ClinVar: Uncertain significance (Hemochromatosis type 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available