T52R (p.Thr52Arg) variant of TFRC (Transferrin receptor protein 1)
T52R (p.Thr52Arg) 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 0.12 / 1. The record also includes population frequency data and structural context.
T52R (p.Thr52Arg) variant details
- p.Thr52Arg
- rs1184656094
- ClinGen CA355579258
- ClinVar RCV002572964
- TOPMed rs1184656094
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.124
- REVEL 0.02
- CADD 1.99
- PolyPhen-2 0.05
- SIFT 0.71
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available