T148A (p.Thr148Ala) variant of SLC40A1 (Ferroportin)
T148A (p.Thr148Ala) 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 0.56 / 1. The record also includes structural context.
T148A (p.Thr148Ala) variant details
- p.Thr148Ala
- rs2105628182
- ClinGen CA349989197
- ClinVar RCV001420127
- Ensembl rs2105628182
- Likely pathogenic
- Hemochromatosis type 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.556
- AlphaMissense 0.29
- MetaLR 0.54
- MetaSVM -0.13
- PolyPhen-2 0.99
- SIFT 0.10
- EVE 0.68
- ClinVar: Likely pathogenic (Hemochromatosis type 4)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available