V160A (p.Val160Ala) variant of SLC40A1 (Ferroportin)
V160A (p.Val160Ala) in SLC40A1 (Ferroportin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hemochromatosis type 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes structural context.
V160A (p.Val160Ala) variant details
- p.Val160Ala
- rs1553494286
- ClinGen CA349989115
- ClinVar RCV000584752
- Ensembl rs1553494286
- Pathogenic
- Hemochromatosis type 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.815
- AlphaMissense 0.79
- MetaLR 0.90
- MetaSVM 0.97
- PolyPhen-2 0.99
- SIFT 0.17
- EVE 0.52
- ClinVar: Pathogenic (Hemochromatosis type 4)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available