Y68C (p.Tyr68Cys) variant of TFRC (Transferrin receptor protein 1)
Y68C (p.Tyr68Cys) in TFRC (Transferrin receptor protein 1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and structural context.
Y68C (p.Tyr68Cys) variant details
- p.Tyr68Cys
- ExAC rs762924023
- TOPMed rs762924023
- gnomAD rs762924023
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.0678
- REVEL 0.03
- CADD 8.31
- PolyPhen-2 0.01
- SIFT 0.22
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available