G490S (p.Gly490Ser) variant of SLC40A1 (Ferroportin)
G490S (p.Gly490Ser) 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 0.77 / 1. The record also includes structural context.
G490S (p.Gly490Ser) variant details
- p.Gly490Ser
- rs1313335539
- ClinGen CA349986949
- ClinVar RCV001420136
- Ensembl rs1313335539
- Likely pathogenic
- Hemochromatosis type 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.765
- AlphaMissense 0.96
- MetaLR 0.77
- MetaSVM 0.65
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.60
- ClinVar: Likely pathogenic (Hemochromatosis type 4)
- EBI: Likely pathogenic (in HFE4)
- UniProt: Likely pathogenic (in HFE4)
- Structural context available