A143E (p.Ala143Glu) variant of SLC40A1 (Ferroportin)
A143E (p.Ala143Glu) in SLC40A1 (Ferroportin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
A143E (p.Ala143Glu) variant details
- p.Ala143Glu
- TOPMed rs956608384
- gnomAD rs956608384
- Missense
- Variant Prioritization Score for Impact Estimate 0.766
- REVEL 0.75
- CADD 27.40
- PolyPhen-2 0.95
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available