R179T (p.Arg179Thr) variant of SLC40A1 (Ferroportin)
R179T (p.Arg179Thr) in SLC40A1 (Ferroportin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hemochromatosis type 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
R179T (p.Arg179Thr) variant details
- p.Arg179Thr
- rs765023388
- ClinGen CA2024198
- ClinVar RCV001420128
- ExAC rs765023388
- Likely pathogenic
- Hemochromatosis type 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.656
- REVEL 0.56
- CADD 26.00
- PolyPhen-2 0.97
- SIFT 0.01
- ClinVar: Likely pathogenic (Hemochromatosis type 4)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available