I71T (p.Ile71Thr) variant of TFRC (Transferrin receptor protein 1)
I71T (p.Ile71Thr) 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 0.15 / 1. The record also includes population frequency data and structural context.
I71T (p.Ile71Thr) variant details
- p.Ile71Thr
- TOPMed rs1718575802
- gnomAD rs1718575802
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.154
- REVEL 0.08
- CADD 8.65
- PolyPhen-2 0.01
- SIFT 0.10
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available