I142V (p.Ile142Val) variant of SLC40A1 (Ferroportin)
I142V (p.Ile142Val) in SLC40A1 (Ferroportin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
I142V (p.Ile142Val) variant details
- p.Ile142Val
- TOPMed rs2031136260
- gnomAD rs2031136260
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- REVEL 0.24
- CADD 16.90
- PolyPhen-2 0.01
- SIFT 0.71
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available