R9C (p.Arg9Cys) variant of SLC40A1 (Ferroportin)
R9C (p.Arg9Cys) in SLC40A1 (Ferroportin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
R9C (p.Arg9Cys) variant details
- p.Arg9Cys
- ExAC rs747421463
- TOPMed rs747421463
- gnomAD rs747421463
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.374
- REVEL 0.36
- CADD 24.60
- PolyPhen-2 0.33
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available