R121C (p.Arg121Cys) variant of TFRC (Transferrin receptor protein 1)
R121C (p.Arg121Cys) in TFRC (Transferrin receptor protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
R121C (p.Arg121Cys) variant details
- p.Arg121Cys
- rs779942371
- ClinGen CA2778326
- cosmic curated COSV64054
- ClinVar RCV002023082
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.04
- CADD 16.40
- PolyPhen-2 0.23
- SIFT 0.18
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available