I79V (p.Ile79Val) variant of SLC40A1 (Ferroportin)
I79V (p.Ile79Val) in SLC40A1 (Ferroportin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Hemochromatosis type 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
I79V (p.Ile79Val) variant details
- p.Ile79Val
- rs2031251997
- ClinGen CA349989674
- ClinVar RCV001139634
- TOPMed rs2031251997
- Uncertain significance
- Inborn genetic diseases; Hemochromatosis type 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.621
- REVEL 0.62
- CADD 23.90
- PolyPhen-2 1.00
- SIFT 0.08
- ClinVar: Uncertain significance (Inborn genetic diseases; Hemochromatosis type 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available