L122F (p.Leu122Phe) variant of TFRC (Transferrin receptor protein 1)
L122F (p.Leu122Phe) in TFRC (Transferrin receptor protein 1) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. 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.
L122F (p.Leu122Phe) variant details
- p.Leu122Phe
- ExAC rs746321395
- TOPMed rs746321395
- gnomAD rs746321395
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.0733
- REVEL 0.07
- CADD 3.14
- PolyPhen-2 0.01
- SIFT 0.11
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available