F77S (p.Phe77Ser) variant of TFRC (Transferrin receptor protein 1)
F77S (p.Phe77Ser) 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 0.61 / 1. The record also includes population frequency data and structural context.
F77S (p.Phe77Ser) variant details
- p.Phe77Ser
- rs1560089709
- ClinGen CA355578927
- ClinVar RCV003723534
- TOPMed rs1560089709
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.606
- REVEL 0.58
- CADD 25.70
- PolyPhen-2 0.85
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available