G206R (p.Gly206Arg) variant of SLC40A1 (Ferroportin)
G206R (p.Gly206Arg) 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 0.59 / 1. The record also includes structural context.
G206R (p.Gly206Arg) variant details
- p.Gly206Arg
- rs770303749
- ClinGen CA349988807
- ClinVar RCV001420131
- ExAC rs770303749
- Likely pathogenic
- Hemochromatosis type 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.59
- AlphaMissense 0.98
- MetaLR 0.56
- MetaSVM -0.16
- PolyPhen-2 1.00
- SIFT 0.02
- EVE 0.66
- ClinVar: Likely pathogenic (Hemochromatosis type 4)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available