A72T (p.Ala72Thr) variant of TFRC (Transferrin receptor protein 1)
A72T (p.Ala72Thr) in TFRC (Transferrin receptor protein 1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
A72T (p.Ala72Thr) variant details
- p.Ala72Thr
- ExAC rs763556153
- TOPMed rs763556153
- gnomAD rs763556153
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- REVEL 0.27
- CADD 21.40
- PolyPhen-2 1.00
- SIFT 0.12
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available