T70S (p.Thr70Ser) variant of TFRC (Transferrin receptor protein 1)
T70S (p.Thr70Ser) 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 0.09 / 1. The record also includes population frequency data and structural context.
T70S (p.Thr70Ser) variant details
- p.Thr70Ser
- rs1015007364
- ClinGen CA90761903
- ClinVar RCV003733320
- TOPMed rs1015007364
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0854
- REVEL 0.03
- CADD 5.20
- PolyPhen-2 0.03
- SIFT 0.05
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available