R22W (p.Arg22Trp) variant of TFRC (Transferrin receptor protein 1)
R22W (p.Arg22Trp) 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 0.57 / 1. The record also includes population frequency data and structural context.
R22W (p.Arg22Trp) variant details
- p.Arg22Trp
- rs373123870
- ClinGen CA2778408
- cosmic curated COSV10527
- ClinVar RCV003854920
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.572
- REVEL 0.55
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available