F116L (p.Phe116Leu) variant of TFRC (Transferrin receptor protein 1)
F116L (p.Phe116Leu) in TFRC (Transferrin receptor protein 1) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data and structural context.
F116L (p.Phe116Leu) variant details
- p.Phe116Leu
- ExAC rs762067918
- TOPMed rs762067918
- gnomAD rs762067918
- Likely benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.0536
- REVEL 0.04
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.84
- ClinVar: Likely benign (Inborn genetic diseases)
- UniProt: Likely benign
- Population evidence available
- Structural context available