A350D (p.Ala350Asp) variant of SLC40A1 (Ferroportin)
A350D (p.Ala350Asp) 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 0.94 / 1. The record also includes structural context.
A350D (p.Ala350Asp) variant details
- p.Ala350Asp
- rs1553493234
- ClinGen CA349987840
- ClinVar RCV000584743
- Ensembl rs1553493234
- Pathogenic
- Hemochromatosis type 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.94
- AlphaMissense 1.00
- MetaLR 0.92
- MetaSVM 1.01
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.95
- ClinVar: Pathogenic (Hemochromatosis type 4)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available