A175D (p.Ala175Asp) variant of SLC40A1 (Ferroportin)
A175D (p.Ala175Asp) in SLC40A1 (Ferroportin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Increased circulating ferritin concentration; Hemochromatosis type 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes structural context.
A175D (p.Ala175Asp) variant details
- p.Ala175Asp
- rs1060501101
- ClinGen CA16610617
- ClinVar RCV000472101
- Ensembl rs1060501101
- Conflicting interpretations
- Increased circulating ferritin concentration; Hemochromatosis type 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.937
- AlphaMissense 0.97
- MetaLR 0.94
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.96
- ClinVar: Conflicting classifications of pathogenicity (Increased circulating ferritin concentration; Hemochromatosis ty)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available