E46Q (p.Glu46Gln) variant of TFRC (Transferrin receptor protein 1)
E46Q (p.Glu46Gln) 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 0.39 / 1. The record also includes population frequency data and structural context.
E46Q (p.Glu46Gln) variant details
- p.Glu46Gln
- rs541010181
- ClinGen CA2778391
- ClinVar RCV002031205
- 1000Genomes rs541010181
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- REVEL 0.13
- CADD 23.80
- PolyPhen-2 0.72
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available