R88T (p.Arg88Thr) variant of SLC40A1 (Ferroportin)
R88T (p.Arg88Thr) in SLC40A1 (Ferroportin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Hemochromatosis type 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes structural context.
R88T (p.Arg88Thr) variant details
- p.Arg88Thr
- rs1057521155
- ClinGen CA16604003
- ClinVar RCV000435183
- ClinVar RCV003505111
- Pathogenic/Likely pathogenic
- not provided; Hemochromatosis type 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.96
- AlphaMissense 1.00
- MetaLR 0.93
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.98
- ClinVar: Pathogenic/Likely pathogenic (not provided; Hemochromatosis type 4)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available