N144Y (p.Asn144Tyr) variant of SLC40A1 (Ferroportin)
N144Y (p.Asn144Tyr) 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 0.63 / 1. The record also includes structural context.
N144Y (p.Asn144Tyr) variant details
- p.Asn144Tyr
- rs104893662
- ClinGen CA10581910
- ClinVar RCV000234752
- Ensembl rs104893662
- Pathogenic
- Hemochromatosis type 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.628
- AlphaMissense 0.30
- MetaLR 0.74
- MetaSVM 0.66
- PolyPhen-2 0.93
- SIFT 0.11
- EVE 0.34
- ClinVar: Pathogenic (Hemochromatosis type 4)
- EBI: Pathogenic (in HFE4)
- UniProt: Pathogenic (in HFE4)
- Structural context available