L89R (p.Leu89Arg) variant of SLC40A1 (Ferroportin)
L89R (p.Leu89Arg) in SLC40A1 (Ferroportin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
L89R (p.Leu89Arg) variant details
- p.Leu89Arg
- gnomAD rs1489844745
- Missense
- Variant Prioritization Score for Impact Estimate 0.715
- REVEL 0.76
- CADD 27.50
- PolyPhen-2 0.90
- SIFT 0.02
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available