T122I (p.Thr122Ile) variant of SLC40A1 (Ferroportin)
T122I (p.Thr122Ile) 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.
T122I (p.Thr122Ile) variant details
- p.Thr122Ile
- rs2031175179
- ClinGen CA349989374
- ClinVar RCV001046385
- Ensembl rs2031175179
- Uncertain significance
- Hemochromatosis type 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.616
- AlphaMissense 0.09
- MetaLR 0.76
- MetaSVM 0.53
- PolyPhen-2 0.70
- SIFT 0.15
- MutPred 0.41
- ClinVar: Uncertain significance (Hemochromatosis type 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available