V97M (p.Val97Met) variant of SLC40A1 (Ferroportin)
V97M (p.Val97Met) 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 0.49 / 1. The record also includes population frequency data and structural context.
V97M (p.Val97Met) variant details
- p.Val97Met
- rs886055361
- ClinGen CA10611803
- ClinVar RCV000396650
- gnomAD rs886055361
- Uncertain significance
- Hemochromatosis type 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- REVEL 0.51
- CADD 24.10
- PolyPhen-2 0.72
- SIFT 0.04
- ClinVar: Uncertain significance (Hemochromatosis type 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available