Y54F (p.Tyr54Phe) variant of SLC40A1 (Ferroportin)
Y54F (p.Tyr54Phe) in SLC40A1 (Ferroportin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
Y54F (p.Tyr54Phe) variant details
- p.Tyr54Phe
- ExAC rs756895365
- TOPMed rs756895365
- gnomAD rs756895365
- Missense
- Variant Prioritization Score for Impact Estimate 0.703
- REVEL 0.74
- CADD 27.20
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available