Y54C (p.Tyr54Cys) variant of SLC40A1 (Ferroportin)
Y54C (p.Tyr54Cys) in SLC40A1 (Ferroportin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
Y54C (p.Tyr54Cys) variant details
- p.Tyr54Cys
- ExAC rs756895365
- TOPMed rs756895365
- gnomAD rs756895365
- Missense
- Variant Prioritization Score for Impact Estimate 0.82
- REVEL 0.92
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available