T2S (p.Thr2Ser) variant of SLC40A1 (Ferroportin)
T2S (p.Thr2Ser) 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 0.29 / 1. The record also includes population frequency data and structural context.
T2S (p.Thr2Ser) variant details
- p.Thr2Ser
- rs1424413416
- ClinGen CA349990183
- ClinVar RCV001337456
- TOPMed rs1424413416
- Uncertain significance
- Hemochromatosis type 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- REVEL 0.25
- CADD 15.80
- PolyPhen-2 0.00
- SIFT 0.52
- ClinVar: Uncertain significance (Hemochromatosis type 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available