V160F (p.Val160Phe) variant of SLC40A1 (Ferroportin)
V160F (p.Val160Phe) 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 0.88 / 1. The record also includes structural context.
V160F (p.Val160Phe) variant details
- p.Val160Phe
- rs2105628115
- ClinGen CA349989117
- ClinVar RCV001365008
- Ensembl rs2105628115
- Uncertain significance
- Hemochromatosis type 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.877
- AlphaMissense 0.78
- MetaLR 0.93
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.80
- ClinVar: Uncertain significance (Hemochromatosis type 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available