G204V (p.Gly204Val) variant of SLC40A1 (Ferroportin)
G204V (p.Gly204Val) 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 0.73 / 1. The record also includes population frequency data and structural context.
G204V (p.Gly204Val) variant details
- p.Gly204Val
- rs1205429003
- ClinGen CA349988815
- ClinVar RCV001420130
- gnomAD rs1205429003
- Likely pathogenic
- Hemochromatosis type 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.727
- REVEL 0.72
- AlphaMissense 0.97
- MetaLR 0.74
- MetaSVM 0.22
- CADD 25.50
- PolyPhen-2 1.00
- ClinVar: Likely pathogenic (Hemochromatosis type 4)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available