R11K (p.Arg11Lys) variant of SLC40A1 (Ferroportin)
R11K (p.Arg11Lys) in SLC40A1 (Ferroportin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
R11K (p.Arg11Lys) variant details
- p.Arg11Lys
- TOPMed rs1167750579
- gnomAD rs1167750579
- Missense
- Variant Prioritization Score for Impact Estimate 0.473
- REVEL 0.28
- CADD 15.20
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available