S57R (p.Ser57Arg) variant of SLC40A1 (Ferroportin)
S57R (p.Ser57Arg) in SLC40A1 (Ferroportin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
S57R (p.Ser57Arg) variant details
- p.Ser57Arg
- TOPMed rs1262427670
- gnomAD rs1262427670
- Missense
- Variant Prioritization Score for Impact Estimate 0.6
- REVEL 0.78
- CADD 24.70
- PolyPhen-2 0.90
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available