R120L (p.Arg120Leu) variant of TFRC (Transferrin receptor protein 1)
R120L (p.Arg120Leu) in TFRC (Transferrin receptor protein 1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
R120L (p.Arg120Leu) variant details
- p.Arg120Leu
- ExAC rs747082551
- TOPMed rs747082551
- gnomAD rs747082551
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.202
- REVEL 0.08
- CADD 7.75
- PolyPhen-2 0.01
- SIFT 0.19
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available