Y133C (p.Tyr133Cys) variant of SLC40A1 (Ferroportin)
Y133C (p.Tyr133Cys) 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.
Y133C (p.Tyr133Cys) variant details
- p.Tyr133Cys
- TOPMed rs1262972709
- gnomAD rs1262972709
- Missense
- Variant Prioritization Score for Impact Estimate 0.823
- REVEL 0.93
- CADD 31.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available