V73M (p.Val73Met) variant of TFRC (Transferrin receptor protein 1)
V73M (p.Val73Met) 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 0.06 / 1. The record also includes population frequency data and structural context.
V73M (p.Val73Met) variant details
- p.Val73Met
- rs775628655
- ClinGen CA2778373
- ClinVar RCV002303637
- ExAC rs775628655
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0615
- REVEL 0.02
- CADD 8.08
- PolyPhen-2 0.18
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available