Y64H (p.Tyr64His) variant of SLC40A1 (Ferroportin)
Y64H (p.Tyr64His) 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 0.62 / 1. The record also includes structural context.
Y64H (p.Tyr64His) variant details
- p.Tyr64His
- rs1285653301
- ClinGen CA349989758
- ClinVar RCV001228946
- Ensembl rs1285653301
- Uncertain significance
- Hemochromatosis type 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.623
- AlphaMissense 0.97
- MetaLR 0.65
- MetaSVM 0.37
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.38
- ClinVar: Uncertain significance (Hemochromatosis type 4)
- EBI: Variant of uncertain significance (in HFE4)
- UniProt: Uncertain significance (in HFE4)
- Structural context available