E45D (p.Glu45Asp) variant of TFRC (Transferrin receptor protein 1)
E45D (p.Glu45Asp) 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.
E45D (p.Glu45Asp) variant details
- p.Glu45Asp
- 1000Genomes rs552921034
- ExAC rs552921034
- TOPMed rs552921034
- gnomAD rs552921034
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.136
- REVEL 0.10
- CADD 14.80
- PolyPhen-2 0.99
- SIFT 0.23
- ClinVar: Uncertain significance (not provided)
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Structural context available