R121G (p.Arg121Gly) variant of TFRC (Transferrin receptor protein 1)
R121G (p.Arg121Gly) 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 0.25 / 1. The record also includes population frequency data and structural context.
R121G (p.Arg121Gly) variant details
- p.Arg121Gly
- ExAC rs779942371
- TOPMed rs779942371
- gnomAD rs779942371
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- REVEL 0.03
- CADD 12.30
- PolyPhen-2 0.03
- SIFT 0.39
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available