M41I (p.Met41Ile) variant of SLC40A1 (Ferroportin)
M41I (p.Met41Ile) in SLC40A1 (Ferroportin) is a missense change. Clinical records from ClinVar 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 0.82 / 1. The record also includes population frequency data and structural context.
M41I (p.Met41Ile) variant details
- p.Met41Ile
- ExAC rs758193749
- TOPMed rs758193749
- gnomAD rs758193749
- Uncertain significance
- Hemochromatosis type 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.822
- REVEL 0.85
- CADD 26.20
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Hemochromatosis type 4)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available