R22Q (p.Arg22Gln) variant of TFRC (Transferrin receptor protein 1)
R22Q (p.Arg22Gln) 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 0.55 / 1. The record also includes population frequency data and structural context.
R22Q (p.Arg22Gln) variant details
- p.Arg22Gln
- rs576156970
- ClinGen CA2778407
- ClinVar RCV003545787
- 1000Genomes rs576156970
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.555
- REVEL 0.39
- CADD 25.10
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available