V162I (p.Val162Ile) variant of SLC40A1 (Ferroportin)
V162I (p.Val162Ile) 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 record also includes structural context.
V162I (p.Val162Ile) variant details
- p.Val162Ile
- rs2468775907
- ClinGen CA349989105
- ClinVar RCV003839751
- Uncertain significance
- Hemochromatosis type 4
- Missense
- ClinVar: Uncertain significance (Hemochromatosis type 4)
- EBI: Variant of uncertain significance (in HFE4)
- UniProt: Uncertain significance (in HFE4)
- Structural context available