Y123C (p.Tyr123Cys) variant of TFRC (Transferrin receptor protein 1)
Y123C (p.Tyr123Cys) in TFRC (Transferrin receptor protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
Y123C (p.Tyr123Cys) variant details
- p.Tyr123Cys
- TOPMed rs1718444408
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.12
- CADD 18.30
- PolyPhen-2 0.51
- SIFT 0.11
- Population evidence available
- Structural context available