R120C (p.Arg120Cys) variant of TFRC (Transferrin receptor protein 1)
R120C (p.Arg120Cys) 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 0.14 / 1. The record also includes population frequency data and structural context.
R120C (p.Arg120Cys) variant details
- p.Arg120Cys
- ExAC rs768793663
- TOPMed rs768793663
- gnomAD rs768793663
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.137
- REVEL 0.11
- CADD 15.10
- PolyPhen-2 0.18
- SIFT 0.04
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available