R27W (p.Arg27Trp) variant of TFRC (Transferrin receptor protein 1)
R27W (p.Arg27Trp) in TFRC (Transferrin receptor protein 1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
R27W (p.Arg27Trp) variant details
- p.Arg27Trp
- NCI-TCGA Cosmic COSV1007
- cosmic curated COSV10078
- TOPMed rs1170386829
- gnomAD rs1170386829
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- REVEL 0.38
- CADD 31.00
- PolyPhen-2 0.97
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available