R3K (p.Arg3Lys) variant of SLC40A1 (Ferroportin)
R3K (p.Arg3Lys) in SLC40A1 (Ferroportin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
R3K (p.Arg3Lys) variant details
- p.Arg3Lys
- TOPMed rs1227165313
- gnomAD rs1227165313
- Missense
- Variant Prioritization Score for Impact Estimate 0.432
- REVEL 0.22
- CADD 13.80
- PolyPhen-2 0.00
- SIFT 0.81
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available